An alias in which the alias exhibits true synonymy. Example: ornithine cycle is an exact synonym of urea cycle. Jade Hotchkiss 2019-06-06T11:12:46.678811Z hasExactSynonym A source from where the formal description was derived. This can be in the form of a link to a relevant webpage, the IRI of a term in an existing ontology, a reference to specific literature, etc. Jade Hotchkiss 2019-07-17T14:29:18.44134Z definition source description source DbXref Xref database cross-reference database_cross_reference db xref hasDbXref SBO:0000554 A database cross-reference. An annotation which directs one to information contained within a database. database cross reference An indication of whether a term/class already exists in other ontologies. Only used for term (descriptions) that were not taken directly from an existing ontology. Jade Hotchkiss 2019-07-17T14:48:28.267928Z Annotation options: Negligable Not relevant to context of sickle cell Few but definitions not freely available Suggest update to description Suggest update to label None existence in other ontologies editor_notes IAO:0000232 An administrative note of use for a curator but of no use for a user. Jade Hotchkiss 2019-07-17T14:56:11.09874Z curator note HLO (Jade Hotchkiss) An alias in which the alias exhibits outdated or deprecated synonymy. Jade Hotchkiss 2019-07-18T11:58:41.536629Z hasDeprecatedSynonym Sufficient SCDO requested inclusion of this property into RO. Update details here again after inclusion. SCDO A relation between a measurement and a plan specification for obtaining the measurement that has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. Jade Hotchkiss 2019-08-07T11:49:00.948425Z has protocol SCDO:1000218 Sufficient A relationship that holds between a condition such as a disease (hemoglobinopathy) and a phenotype (i.e. manifestation), where the phenotype is evidence of the condition. Jade Hotchkiss 2019-08-20T20:01:55.908937Z has manifestation SCDO:0000660 Suggest update to description Suggest update to description in SCDO SCDO to suggest inclusion of property into RO. Update annotations at a later stage if necessary. A relationship between an entity and another entity, where the second entity has a causal role for the first entity. Jade Hotchkiss 2019-08-20T20:01:55.913699Z caused or contributed to by SCDO:1000210 Sufficient A relation between a condition (disease or phenotype) or an entity (molecular phenotype) and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition or entity. Jade Hotchkiss 2019-08-20T20:01:55.915005Z has causal or contributing genetic variation SCDO:1000172 Sufficient A relation between a condition (hemoglobinopathy) and the genotype that causes the condition. Jade Hotchkiss 2019-08-20T20:01:55.916229Z has causal genotype SCDO:1000223 Sufficient A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition. Jade Hotchkiss 2019-08-20T20:01:55.917563Z has causal molecular phenotype SCDO:1000217 Sufficient A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype. Jade Hotchkiss 2019-08-20T20:01:55.918893Z causes or contributes to molecular phenotype Sufficient SCDO to suggest inclusion of property into RO. Update annotations at a later stage if necessary. A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype. Jade Hotchkiss 2019-08-20T20:01:55.920058Z causes molecular phenotype SCDO:1000184 Sufficient A relationship between an entity (e.g. genetic variation such as mutation or specific allele) and a genotype, where the entity contributes to the genotype. Jade Hotchkiss 2019-08-20T20:01:55.92124Z contributes to genotype None Suggest inclusion into RO HIO (Jade Hotchkiss) A relationship between an entity and another entity, where the first entity has the potential to cause the second entity. Jade Hotchkiss 2019-08-20T20:01:55.922404Z may cause SCDO:1000203 Sufficient A relation between a condition (disease or phenotype) and an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of the condition. Jade Hotchkiss 2019-08-20T20:01:55.924776Z has risk factor Suggest update to description Suggest inclusion of description in SO HIO (Jade Hotchkiss) A relationship between an entity and another entity where the first entity is connected with the second in some way. Jade Hotchkiss 2019-08-20T20:01:55.925969Z associated with SCDO:0000663 Sufficient A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis. Jade Hotchkiss 2019-08-20T20:01:55.928349Z diagnosed using tool SCDO:1000220 Sufficient A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis. Jade Hotchkiss 2019-08-20T20:01:55.92955Z diagnosed using measurement SCDO:1000194 Sufficient A relation between a diagnostic tool and the diagnostic measurement that it measures. Jade Hotchkiss 2019-08-20T20:01:55.930712Z measures SCDO:1000192 Sufficient A relation between a diagnostic tool (test, method, assay, etc.) and a diagnostic device, where the diagnostic device is used in the application of the diagnostic tool. Jade Hotchkiss 2019-08-20T20:01:55.931852Z uses diagnostic device SCDO:0000474 Sufficient A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device. Jade Hotchkiss 2019-08-20T20:01:55.93301Z has output measurement SCDO:0000475 Sufficient A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process. Jade Hotchkiss 2019-08-20T20:01:55.935311Z uses medical device SCDO:1000180 Sufficient A relationship that holds between a phenotype (i.e. manifestation) and a condition such as a disease (hemoglobinopathy), wherein the phenotype is evidence of the condition. Jade Hotchkiss 2019-08-20T20:01:55.936461Z manifestation of None Suggest inclusion into RO HIO (Jade Hotchkiss) A relationship between a gene and a condition where the gene contains one or more genetic variations that contribute to the condition. Jade Hotchkiss 2019-08-20T20:01:55.93763Z carries genetic variation contributing to Suggest update to description Needs additional reviewing before change suggested to RO. Suggest update to description in RO. HIO (Jade Hotchkiss) A relationship between a gene product and a gene where the gene participates in some gene expression process (GO:0010467) where the output of that process is the gene product. Jade Hotchkiss 2019-08-20T20:01:55.938818Z gene product of None Suggest inclusion into RO HIO (Jade Hotchkiss) A relationship between a gene variation and a gene, where the genetic variation is carried on the gene. Jade Hotchkiss 2019-08-20T20:01:55.939946Z is genetic variation in gene RO:0003302 Sufficient A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition. Jade Hotchkiss 2019-08-20T20:01:55.941098Z causes or contributes to condition results_in RO:0003303 Sufficient A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition. Jade Hotchkiss 2019-08-20T20:01:55.942235Z causes condition SCDO:1000196 Sufficient A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype. Jade Hotchkiss 2019-08-20T20:01:55.943399Z has contributing genetic variation SCDO:1000204 Sufficient A relation between an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a condition and the condition (disease or phenotype) that it increases the likelihood of. Jade Hotchkiss 2019-08-20T20:01:55.944551Z risk factor for SCDO:1000190 Sufficient A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement. Jade Hotchkiss 2019-08-20T20:01:55.94568Z obtained via diagnostic tool SCDO:1000191 Sufficient A relationship between a diagnostic device and the diagnostic tool by which the device is used. Jade Hotchkiss 2019-08-20T20:01:55.94681Z used by diagnostic tool SCDO:1000193 Sufficient A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device. Jade Hotchkiss 2019-08-20T20:01:55.94795Z output by diagnostic device SCDO_1000018 Sufficient A relation between a type of treatment or a specific treatment and a condition (phenotype or disease), where the type of treatment or specific treatment treat the condition. Jade Hotchkiss 2019-08-20T20:01:55.949136Z treats SCDO:1000183 Sufficient A relationship between 'a' and 'b', where 'a' has some causal role for 'b'. Jade Hotchkiss 2019-08-21T19:27:50.52577Z causes or contributes to SCDO:1000005 Sufficient A relationship between a condition (phenotype or disease), contributing cause of condition, entity (aspect of quality of life) or process (therapy) and a modifier, where the condition, contributing cause of condition, entity, or process is modified by the modifier in some way. Jade Hotchkiss 2019-08-22T08:18:39.73081Z modified by SCDO:1000015 Suggest update to description Suggest update to description in SCDO A relationship between a modifier and a condition (phenotype or disease) or contributing cause of a condition, entity (aspect of quality of life) or process (therapy), where the modifier modifies the condition or cause of condition, entity, or process in some way. Jade Hotchkiss 2019-08-22T08:18:39.732033Z modifies SCDO:0000468 Suggest update in SCDO Used as annotation property in SCDO. Suggest inclusion of "Age of Onset" class and use of this property as an object property. A relation between a disease and the age, developmental stage, or period of life at which the disease or the initial symptoms or manifestations of the disease usually appear in individuals. Jade Hotchkiss 2019-08-22T08:58:41.109618Z has age of onset None HIO (Jade Hotchkiss) A relation between a disease and the manner in which the initial symptoms or manifestations of the disease usually appear in individuals. Jade Hotchkiss 2019-08-22T09:01:48.76434Z has mode of onset has_qualifying_context GENO:0000580 Sufficient A relation used to describe a context or conditions that define and/or identify an entity. Jade Hotchkiss 2019-08-22T09:05:41.389308Z has qualifier none Suggest inclusion into HIO (Jade Hotchkiss) A relation between a genetic variation (e.g. mutation or genetic recombination) and a condition (disease or phenotype), where the genetic variation has some causal or contributing role that influences the condition. Jade Hotchkiss 2019-08-23T19:44:30.600971Z genetic variation causes or contributes to condition None Suggest inclusion into RO HIO (Jade Hotchkiss) A relation between a molecular phenotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the molecular phenotype. Jade Hotchkiss 2019-08-23T19:54:48.329598Z molecular phenotype has causal or contributing genetic variation HIO:0000001 Hearing Impairment Ontology None HIO (Jade Hotchkiss) The root of all terms in the Hearing Impairment Ontology, an effort to unambiguously describe all concepts and unifying up-to-date knowledge in hearing impairment. Jade Hotchkiss 2019-05-24T09:50:47.087225Z HIO HIO:0000002 Deafness Hearing Defect Hearing Loss HP:0000365 Suggest update to description Suggest update to description in the HPO. The new description also encompasses conductive hearing impairment whereby the problem is not the perception of sound but the transmission of sound from the outer environment to the inner ear. A decreased perception and/or transmission of sound. Jade Hotchkiss 2019-05-24T09:51:09.421966Z Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. Hearing Impairment HIO:0000003 OGMS:0000023 Sufficient A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species. Jade Hotchkiss 2019-05-24T09:51:21.117445Z Phenotype HIO:0000004 NCIT:C16612 Sufficient A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function. Jade Hotchkiss 2019-05-24T09:51:45.627156Z Gene HIO:0000005 SCDO_0000359 Sufficient Jade Hotchkiss 2019-05-24T09:54:51.10188Z deprecated terms HIO:0000006 Central Hearing Loss High Frequency Hearing Loss High-Frequency Hearing Loss Inner Ear Hearing Impairment Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss or Deafness SNHL Sensorineural Deafness Sensorineural Hearing Loss Sensorineural Hearing Loss Disorder Sensory Hearing Loss EFO:1001176 Sufficient Hearing loss due to disease of the auditory pathways (in the central nervous system) which originate in the cochlear nuclei of the pons and then ascend bilaterally to the midbrain, the thalamus, and then the auditory cortex in the temporal lobe. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral brain stem lesions involving the cochlear nuclei may result in unilateral hearing loss. Jade Hotchkiss 2019-05-24T09:58:12.272446Z Sensorineural Hearing Impairment HIO:0000007 Conduction Deafness Conductive Deafness Conductive Hearing Loss Hearing Loss, Conductive Outer or Middle Ear Hearing Impairment HP:0000405 Sufficient An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Jade Hotchkiss 2019-05-24T09:58:12.273093Z Conductive Hearing Impairment HIO:0000008 Inner and Outer or Middle Ear Hearing Impairment Mixed Hearing Loss HP:0000410 Sufficient A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Jade Hotchkiss 2019-05-24T09:58:12.273764Z Mixed Hearing Impairment HIO:0000009 Non-Syndromic Hearing Impairment Non-Syndromic Hearing Loss Nonsyndromic Hearing Loss MP:0006328 Sufficient Populate with sub-classes of "nonsyndromic deafness" in DO. See dc:source. but use Uniprot, Human Diseases, to write appropriate descriptions. A form of hearing impairment that is not associated with visible abnormalities of the external ear or other signs and symptoms and can be associated with abnormalities of the middle ear and/or inner ear Jade Hotchkiss 2019-05-24T09:58:12.274397Z Nonsyndromic Hearing Impairment HIO:0000010 Hearing Loss Associated with Syndrome SHL Syndromic Genetic Deafness Syndromic Hearing Loss MP:0006330 Suggest update to description Suggest update to description in MP Hearing impairment that is usually associated with malformations of the external ear and/or other inherited signs and symptoms. Jade Hotchkiss 2019-05-24T09:58:12.274993Z Syndromic Hearing Impairment HIO:0000011 Jade Hotchkiss 2019-05-24T09:59:42.321442Z Usher Syndrome HIO:0000012 Usher Syndrome Type 1 NCIT:C126327 Sufficient A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. Jade Hotchkiss 2019-05-24T10:00:24.387053Z Usher Syndrome Type I HIO:0000013 Usher Syndrome Type 2 NCIT:C126328 Suggest update to description Suggest update to description in NCIT A syndrome characterised by congenital sensorineural hearing impairment that presents as mild to moderate hearing impairment at low frequencies and severe to profound hearing impairment at higher frequencies. Patients experience adolsescent or adult onset progressive vision loss due to retinitis pigmentosa but do not present vestibular dysfunction Jade Hotchkiss 2019-05-24T10:00:59.51614Z Usher Syndrome Type II HIO:0000014 Usher Syndrome Type 3 NCIT:C126329 Sufficient A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. Jade Hotchkiss 2019-05-24T10:00:59.51685Z Usher Syndrome Type III HIO:0000015 Goiter-Deafness Syndrome NCIT:C121745 Sufficient A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. Jade Hotchkiss 2019-05-24T10:01:38.567547Z Pendred Syndrome HIO:0000016 BOR Syndrome Branchiootorenal (BOR) Syndrome Branchiootorenal Spectrum Disorders Branchiootorenal Syndrome Melnick-Fraser Syndrome MESH:D019280 Sufficient An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. Jade Hotchkiss 2019-05-24T10:03:32.367226Z Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. Brancho-Oto-Renal Syndrome HIO:0000017 NCIT:C85222 Sufficient A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. Jade Hotchkiss 2019-05-24T10:04:49.777475Z Waardenburg Syndrome HIO:0000018 NCIT:C74984 Sufficient A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. Jade Hotchkiss 2019-05-24T10:04:49.778171Z Stickler Syndrome HIO:0000019 Alport's Syndrome Hereditary Nephritis NCIT:C34842 Sufficient A genetic syndrome usually inherited as an X-link trait. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. Jade Hotchkiss 2019-05-24T10:04:49.778837Z Alport Syndrome HIO:0000020 Cardioauditory Syndrome of Jervell and Lange Nielsen Cardioauditory Syndrome of Jervell and Lange-Nielsen JLNS Jervell Lange Nielsen Syndrome Jervell-Lange Nielsen Syndrome; Cardio-Auditory Syndrome Long QT Interval-Deafness Syndrome ORPHA:90647 Sufficient An autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias. Jade Hotchkiss 2019-05-24T10:04:49.779529Z It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). Jervell and Lange-Nielsen Syndrome HIO:0000021 Franceschetti-Klein Syndrome Mandibulofacial Dysostosis Mandibulofacial Dysostosis without Limb Anomalies Treacher-Collins' Syndrome NCIT:C75018 Sufficient A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures. Jade Hotchkiss 2019-05-24T10:46:46.481915Z A Malformation Syndrome Treacher Collins Syndrome HIO:0000022 ANSD Auditory Dys-synchrony Auditory Neuropathy Spectrum Disorder NCIT:C116364 Sufficient A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. Jade Hotchkiss 2019-05-24T10:52:49.502419Z Auditory Neuropathy HIO:0000023 Gonodal Dysgenesis, XX Type, with Deafness XX Gonodal Dysgenesis - Deafness XX Gonodal Dysgenesis-Deafness Syndrome DOID:0050857c Sufficient An autosomal recessive disease that is characterized by sensorineural hearing loss and ovarian failure. Jade Hotchkiss 2019-05-24T10:54:43.652395Z Perrault Syndrome HIO:0000024 Anderson-Warburg Syndrome Atrophia Bulborum Hereditaria Episkopi Blindness Fetal Iritis Syndrome ND Norrie Disease Whitnall-Norman Syndrome NCIT:C118634 Sufficient A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays. Jade Hotchkiss 2019-05-24T10:59:25.7514Z Norrie Syndrome HIO:0000025 Coloboma Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities; and Ear Malformations (CHARGE) Association Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association Heart Malformation; NCIT:C75100 Sufficient A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. Jade Hotchkiss 2019-05-24T11:00:01.2135Z CHARGE Syndrome HIO:0000026 PHARC PHARC Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract Syndrome (Disorder) SNOMEDCT:723452007 Sufficient A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12). Jade Hotchkiss 2019-05-24T12:01:15.412753Z Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome HIO:0000027 DIDMOAD DIDMOAD Syndrome Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome WS ORPHA:3463 Sufficient Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). Jade Hotchkiss 2019-05-24T12:08:57.432291Z Wolfram Syndrome HIO:0000028 WFS WFS1 WS1 DOID:0110629 Sufficient An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. Jade Hotchkiss 2019-05-27T18:07:44.46914Z Wolfram Syndrome 1 HIO:0000029 WFS2 WS2 DOID:0110630 Sufficient An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. Jade Hotchkiss 2019-05-27T18:07:44.469849Z Wolfram Syndrome 2 HIO:0000030 ORPHA:411590 Suggest update to description Suggest update to description in Orphanet. We have removed part of the description and put it in a comment. A rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Jade Hotchkiss 2019-05-27T18:33:13.190471Z Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. Wolfram-Like Syndrome HIO:0000031 Anterior Chamber Cleavage Syndrome RIEG3 Rieger Syndrome Type 3 OMIM:602482 Sufficient The link to OMIM does not work, but it is sited by other ontologies too. An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. Jade Hotchkiss 2019-05-27T19:24:49.818667Z Axenfeld-Rieger Syndrome, Type 3 HIO:0000032 Disease, Disorder, or Syndrome Associated with Hearing Loss None Term too specific to HIO to be requested for inclusion in other ontologies. HIO (Jade Hotchkiss) A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition (a syndrome) or a material entity which is clinically abnormal and part of an extended organism (disorder), or a definite pathologic process with a characteristic set of signs and symptomsa (a disease) that's presence has been associated with the occurrence of hearing impairment. Jade Hotchkiss 2019-05-30T08:58:46.772723Z Disease, Disorder or Syndrome Associated with Hearing Impairment HIO:0000033 Concepts, Genetic MESH:D055614 Sufficient The biological processes, properties, and objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits. Jade Hotchkiss 2019-05-31T07:19:21.5092Z Genetic Phenomena HIO:0000034 SCDO:0001369 Sufficient SCDO to request update to description in NCIT. Update at a later stage if necessary. Deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents. Jade Hotchkiss 2019-05-31T07:19:42.003651Z Genetic Variation HIO:0000035 SCDO:0000379 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. Diagnostic tools (including the instruments, laboratory assays and methods of patient examination) used for differential diagnosis, the measurements obtained using these tools, and the diagnostic devices used in obtaining the measurements. Jade Hotchkiss 2019-05-31T07:22:27.329219Z Diagnostics HIO:0000036 Therapy Treatment MESH:D013812 Suggest update to description Suggest update to description in MESH Procedures, agents or devices concerned with the remedial treatment or prevention of diseases. Jade Hotchkiss 2019-05-31T07:22:43.208574Z Therapeutics HIO:0000037 Meniere Disease Meniere Vertigo Otogenic Vertigo MESH:D008575 Sufficient A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. Jade Hotchkiss 2019-05-31T07:28:23.969246Z Meniere's Disease HIO:0000038 CMT Hereditary Motor and Sensory Neuropathy Hereditary Sensorimotor Neuropathy NCIT:C75467 Sufficient Friedreich's Ataxia Marie Ataxia An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. Jade Hotchkiss 2019-05-31T07:28:23.969977Z Charcot-Marie-Tooth Disease HIO:0000039 Classic RTA Familial Distal Primary Acidosis Renal Tubular Acidosis Type 1 dRTA ORPHA:18 Sufficient Is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. Jade Hotchkiss 2019-05-31T07:28:23.970686Z Distal Renal Tubular Acidosis (dRTA) HIO:0000040 Autosomal Dominant Dilated Cardiomyopathy with Sensorineural Hearing Loss CMD1J Cardiomyopathy, Dilated, 1J Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant Dilated Cardiomyopathy 1J Neurosensory Hearing Loss with Dilated Cardiomyopathy Sensorineural Deafness with Dilated Cardiomyopathy Sensorineural Hearing Loss with Dilated Cardiomyopathy MONDO:0011541 Suggest update to description Suggest update to description in MONDO, by removing the name of the term from the start of the description. Positioning of this term still up for discussion...perhaps should be moved below "Syndromic Hearing Impairment"? An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Jade Hotchkiss 2019-05-31T07:30:50.301074Z A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. Cardiomyopathy, Dilated, 1J HIO:0000041 MYH9-Related Disease NCIT:C158788 Sufficient An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities. Jade Hotchkiss 2019-05-31T07:32:25.393602Z Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss HIO:0000042 Bleeding Disorder, Platelet-Type, 6 Dohle Leukocyte Inclusions Dohle Leukocyte Inclusions with Giant Platelets MHA MYH9-Related Disease Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss Macrothrombocytopenia with Leukocyte Inclusions Matins May-Hegglin Thrombocytopenia Not relevant to context of HLO HIO (Samuel) A disorder that may result in skin haemorrhage or blood spots on the skin (purpura) and bleeding. It is characterized by low blood platelet count (thrombocytopenia), giant platelets, and characteristic inclusions in peripheral blood leukocytes, and it is associated with mutation of the MYH9 gene. The condition may cause abnormalities in the inner ear of some patients hence the development of sensorineural hearing impairment. The hearing impairment may be congenital or developed at a later age or even in late adulthood. Jade Hotchkiss 2019-05-31T07:46:18.524666Z May-Hegglin Anomaly HIO:0000043 Sebastian Platelet Syndrome Not relevant to context of HLO HIO (Samuel) A rare autosomal dominant genetic disease which results in abnormal platelet formation and impaired blood clotting function. The signs and symptoms include bleeding problems, hearing impairment, kidney disorders and abnormal eye lens function. The condition is a MYH9-related disorder. Jade Hotchkiss 2019-05-31T07:46:18.525359Z Sebastian Syndrome HIO:0000044 NCIT:C131639 Sufficient An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. Jade Hotchkiss 2019-05-31T07:46:18.52605Z Epstein Syndrome HIO:0000045 NCIT:C131642 Sufficient An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. Jade Hotchkiss 2019-05-31T07:46:18.526683Z Fechtner Syndrome HIO:0000046 Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome KID Syndrome Keratitis Ichthyosis and Deafness Syndrome Keratitis, Ichthyosis, and Deafness (KID) Syndrome Keratitis-Ichthyosis-Deafness Syndrome Kid Syndrome, Autosomal Dominant OMIM:148210 Suggest update to description Suggest OMIM removes name of syndrome from the start of the description. An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Jade Hotchkiss 2019-05-31T07:49:43.168998Z Keratitis-Ichthyosis-Deafness (KID) Syndrome HIO:0000047 Keratoderma Palmoplantar with Deafness Keratoderma, Palmoplantar, with Deafness Palmoplantar Keratoderma with Deafness Syndrome (Disorder) Palmoplantar Keratoderma-Hearing Loss Syndrome PpK with Deafness Ppk-Deafness Syndrome SNOMEDCT:722203001 Sufficient A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. Jade Hotchkiss 2019-05-31T07:55:48.14987Z Palmoplantar Keratoderma with Deafness Syndrome HIO:0000048 Hearing Loss, Noise-Induced NIHL Noise Induced Deafness Noise Induced Hearing Impairment Noise Induced Hearing Loss Noise-Induced Hearing Loss NCIT:C34664 Sufficient A condition in which a person loses the ability to hear due to exposure to high intensity sound. Jade Hotchkiss 2019-06-06T18:55:55.160836Z Noise-Induced Hearing Impairment HIO:0000049 Syndrome Associated with Hearing Impairment None Term too specific to HIO to be requested for inclusion in other ontologies. HIO (Jade Hotchkiss) A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition (a syndrome) that's presence has been associated with the occurrence of hearing impairment. Jade Hotchkiss 2019-05-31T09:40:21.835799Z Syndrome Associated with Hearing Impairment HIO:0000050 Disease or Disorder Associated with Hearing Loss None Term too specific to HLO to be irequested for nclusion in other ontologies. HIO (Jade Hotchkiss) A definite pathologic process with a characteristic set of signs and symptoms (a disease) or a material entity which is clinically abnormal and part of an extended organism (disorder) that's presence has been associated with the occurrence of hearing impairment. Jade Hotchkiss 2019-05-31T09:40:21.836524Z Disease or Disorder Associated with Hearing Impairment HIO:0000051 Mild HI Mild HL Mild Hearing Loss Few but definitions not specific enough Suggest update to description in HPO. HIO (Jade Hotchkiss) When hearing loss ranges between 26 to 40 dB. Jade Hotchkiss 2019-05-31T10:39:13.3914Z Mild Hearing Impairment HIO:0000052 Moderate HI Moderate HL Moderate Hearing Loss Few but definitions not specific enough Suggest update to description in HPO. HIO (Jade Hotchkiss) When hearing loss ranges between 41 to 55 dB. Jade Hotchkiss 2019-05-31T10:39:13.392407Z Moderate Hearing Impairment HIO:0000053 Severe HI Severe HL Severe Hearing Loss Few but definitions not specific enough Suggest update to description in HPO. HIO (Jade Hotchkiss) When hearing loss ranges between 71 to 90 dB. Jade Hotchkiss 2019-05-31T10:39:13.393348Z Severe Hearing Impairment HIO:0000054 Profound HI Profound HL Profound Hearing Loss Few but definitions not specific enough Suggest update to description in HPO. HIO (Jade Hotchkiss) When hearing loss range is above 91 dB. Jade Hotchkiss 2019-05-31T10:39:13.394283Z Profound Hearing Impairment HIO:0000055 Progressive Hearing Loss Progressive HI Progressive HL Few but definitions not specific enough Suggest update to description in HPO. HIO (Jade Hotchkiss) Hearing loss that becomes worse over time. Jade Hotchkiss 2019-05-31T10:39:13.395214Z Progressive Hearing Impairment HIO:0000056 ERO:0001448 Sufficient A medical device used to diagnose medical conditions. Jade Hotchkiss 2019-05-31T10:41:48.789368Z Diagnostic Device HIO:0000057 SCDO:0001150 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A medical device used to prevent and treat medical conditions, or to alleviate pain or injury. Jade Hotchkiss 2019-05-31T10:42:05.460152Z Therapeutic Device HIO:0000058 Jade Hotchkiss 2019-05-31T10:47:19.895679Z Clinical Phenotype HIO:0000059 Hearing Normal Few but definitions not freely available HIO (Jade Hotchkiss) When hearing loss ranges between -10 to 15 dB. Jade Hotchkiss 2019-05-31T14:10:43.993526Z Normal Hearing HIO:0000060 Phenotypic Abnormality FYPO:0001985 Sufficient A phenotype that shows detectable differences from normal. Jade Hotchkiss 2019-05-31T14:11:04.679353Z Abnormal Phenotype HIO:0000061 Symptomatic Treatment SCDO:0001133 Sufficient Therapeutics that ease the symptoms without addressing the basic cause of the disease. Jade Hotchkiss 2019-06-06T07:51:10.492445Z Symptomatic Therapeutics HIO:0000062 Supportive Therapy Tertiary Prevention MESH:D055512 Sufficient Measures aimed at providing appropriate supportive and rehabilitative services to minimize morbidity and maximize quality of life after a long-term disease or injury is present. Jade Hotchkiss 2019-06-06T07:51:10.49338Z Supportive Therapeutics HIO:0000063 Preventive Therapeutics Prophylactic Therapeutics SCDO:0000922 Sufficient Activities to prevent a disease or its complications. Jade Hotchkiss 2019-06-06T07:51:10.494403Z Preventative Therapeutics HIO:0000064 NCIT:C15900 Sufficient Therapy dealing with lifestyle management and includes: behavioral and dietary modifications, exercise, stress management, and addiction control. This therapy must be used as major adjunct to 'standard care' or be applied as alternative treatment to conventional medicine practices. Jade Hotchkiss 2019-06-06T07:51:10.495139Z Lifestyle Therapy HIO:0000065 CHEBI:23888 Sufficient Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. Jade Hotchkiss 2019-06-06T07:51:10.495859Z Drug HIO:0000066 SCDO:0000301 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. Therapeutics relating to or used in the cure of diseases. Jade Hotchkiss 2019-06-06T07:51:10.49661Z Curative Therapeutics HIO:0000067 Diagnostic Quantitative Measurement SCDO:0000728 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. An information entity used in the diagnosis of medical conditions. It could be the recording of the output of a diagnostic device or the outcome of a diagnostic tool. Jade Hotchkiss 2019-06-06T07:57:10.042Z Diagnostic Measurement HIO:0000068 Visual Output of a Diagnostic Device SCDO:1000313 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. The visual output that a specific diagnostic device produces. Jade Hotchkiss 2019-06-06T07:57:10.042806Z Diagnostic Device Visual Output HIO:0000069 SCDO:1000032 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis. Jade Hotchkiss 2019-06-06T07:57:10.043528Z Diagnostic Tool HIO:0000070 MESH:D005838 Sufficient The genetic constitution of the individual, comprising the alleles present at each genetic locus. Jade Hotchkiss 2019-06-06T08:03:46.503564Z Genotype HIO:0000071 Genetic Structures MESH:D040342 Sufficient A biological object that contains genetic information and that is involved in transmitting genetically encoded traits from one organism to another. Jade Hotchkiss 2019-06-06T08:03:46.504553Z Genetic Structure HIO:0000072 Diagnostic Questionnaire SCDO:1000033 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A research instrument consisting of a series of questions and other prompts for the purpose of gathering information from respondents to assist with differential diagnosis. Jade Hotchkiss 2019-06-06T08:04:53.846434Z Diagnostic Instrument HIO:0000073 Diagnostic Assay Diagnostic Method Diagnostic Technique Diagnostic Test SCDO:0000082 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A planned process with the objective of producing diagnostic information about the material entity that is the evaluant, by physically examining it or its proxies. Jade Hotchkiss 2019-06-06T08:04:53.847134Z Diagnostic Technique, Method, Test or Assay HIO:0000074 Inheritance HP:0000005 Sufficient The pattern in which a particular genetic trait or disorder is passed from one generation to the next. Jade Hotchkiss 2019-06-06T08:08:07.152108Z Mode of Inheritance HIO:0000075 Autosomal Recessive Form Autosomal Recessive Inheritance Autosomal Recessive Predisposition HP:0000007 Sufficient A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygous (two copies of the same mutant allele) or compound heterozygous (whereby each copy of a gene has a distinct mutant allele). Jade Hotchkiss 2019-06-06T08:08:44.917476Z Autosomal Recessive HIO:0000076 Autosomal Dominant Form Autosomal Dominant Inheritance Autosomal Dominant Predisposition HP:0000006 Sufficient A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. An autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Jade Hotchkiss 2019-06-06T08:08:44.918569Z Autosomal Dominant HIO:0000077 Disease Etiology cause. (n.d.) Saunders Comprehensive Veterinary Dictionary, 3 ed.. (2007). Retrieved July 2 2019 from https://medical-dictionary.thefreedictionary.com/cause None Request inclusion into existing ontology See dc:sources for causes of congenital and acquired hearing loss HIO (Jade Hotchkiss) An agent, event, condition or characteristic which plays an essential role in producing an occurrence of disease. Jade Hotchkiss 2019-06-06T09:25:00.631374Z Disease Cause HIO:0000078 Antidepressant Induced Hearing Impairment Antidepressant Induced Hearing Loss Antidepressant-Induced Hearing Loss EFO:0006324 Sufficient Hearing impairment such as ringing in the ears that is the direct result of treatment with antidepressant medication. Jade Hotchkiss 2019-08-14T08:38:56.483586Z Antidepressant-Induced Hearing Impairment HIO:0000079 None HIO (Jade Hotchkiss) A characteristic of a disease. Jade Hotchkiss 2019-08-14T08:45:38.02359Z Disease Attribute HIO:0000080 Age Symptoms Begin Onset HP:0003674 Sufficient The age group in which disease manifestations appear. Jade Hotchkiss 2019-08-14T08:48:53.204079Z Age of Onset HIO:0000081 None HIO (Jade Hotchkiss) The manner in which a disease first manifests. Jade Hotchkiss 2019-08-14T08:48:53.204899Z Mode of Onset HIO:0000082 Acquired Disease Cause External Disease Cause Extrinsic Disease Cause Extrinsic Disease Etiology Negligable Request inclusion into existing ontology HIO (Jade Hotchkiss) A cause of disease that is (at least initially) external to the organism. This includes exposure to a toxic or infectious agent, physical factors in the environment, or an event that causes injury. Jade Hotchkiss 2019-06-06T09:31:09.947612Z Environmental Disease Cause HIO:0000083 Genetic Cause of Disease Genetic Cause of Disease, Genetic None Request inclusion into existing ontology HIO (Jade Hotchkiss) A genetic factor that is able to cause disease. Jade Hotchkiss 2019-06-06T09:31:26.131914Z Genetic Disease Cause HIO:0000084 Internal Disease Cause Intrinsic Disease Etiology None Request inclusion into existing ontology HIO (Jade Hotchkiss) A cause of disease that is from inside the body, such as bodily dysfunctions or inherited conditions or disorders. Jade Hotchkiss 2019-06-06T09:34:44.913232Z Intrinsic Disease Cause HIO:0000085 IDO:0000586 Sufficient A part of an extended organism that itself has as part a population of one or more infectious agents and that (1) exists as a result of processes initiated by members of the infectious agent population and is (2) clinically abnormal in virtue of the presence of this infectious agent population, or (3) has a disposition to bring clinical abnormality to immunocompetent organisms of the same Species as the host (the organism corresponding to the extended organism) through transmission of a member or offspring of a member of the infectious agent population. Jade Hotchkiss 2019-06-06T09:39:20.15818Z Infection HIO:0000086 Hearing Impairment by Region of Auditory System Hearing Impairment by Region of Ear Hearing Impairment by Site None HIO (Jade Hotchkiss) The classification of hearing impairments according to the region of the auditory system that is affected. Jade Hotchkiss 2019-06-06T10:53:43.33207Z Hearing Impairment by Physiopathology Mechanism HIO:0000087 Drug Induced Hearing Impairment Drug Induced Hearing Loss Drug-Induced Hearing Loss DOID:0070310 Suggest update to description Suggest update to description in DO A hearing impairment that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. Jade Hotchkiss 2019-08-14T08:27:30.974668Z Drug-Induced Hearing Impairment HIO:0000089 None Request inclusion into NCIT as a sub-class of "Personal Medical History". HIO (Jade Hotchkiss) A record of an individual's history of Meningitis. Jade Hotchkiss 2019-08-16T12:20:26.659395Z Personal History of Meningitis HIO:0000090 Gradual Onset Slow Onset HP:0003587 Sufficient Gradual, very slow onset of disease manifestations. Jade Hotchkiss 2019-08-14T08:59:51.948119Z Insidious Onset HIO:0000091 Sudden Onset HP:0011009 Sufficient Sudden appearance of disease manifestations over a short period of time. The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. Jaded Hotchkiss 2019-08-14T09:02:35.402622Z Acute Onset HIO:0000092 OGMS:0000045 Sufficient A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease. Jade Hotchkiss 2019-06-06T11:27:13.692977Z deprecated - Disorder true HIO:0000093 Trauma Wound NCIT:C3671 Sufficient Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. Jade Hotchkiss 2019-06-06T11:27:27.276161Z Injury HIO:0000094 NCIT:C34340 Sufficient An unforeseen and unplanned event or circumstance frequently causing loss or injury. Jade Hotchkiss 2019-06-06T11:42:23.319481Z Accident HIO:0000095 Aging Process NCIT:C21172 Sufficient Any physiological aspect of aging; irreversible changes in an organism that occur over time and lead to a more mature condition. Jade Hotchkiss 2019-06-06T11:46:58.773586Z Aging-Related Process HIO:0000096 NCIT:C16269 Sufficient The process of change in the structure and function of an organism that occurs with the passage of time. Jade Hotchkiss 2019-06-06T11:52:32.472643Z Aging HIO:0000097 NCIT:C17467 Sufficient The process of growing old and showing the effects of time. Jade Hotchkiss 2019-06-06T11:52:32.473371Z Senescence HIO:0000098 Hearing Loss by Stage of Language Development None HIO (Jade Hotchkiss) Hearing loss according to when it first occurs with relation to the stage of language development. Jade Hotchkiss 2019-09-04T08:47:06.548209Z Hearing Impairment by Stage of Language Development HIO:0000099 None HIO (Jade Hotchkiss) Being in the vicinity of a loud noise such that one is hearing 85 A-weighted decibels (dBA) or more. Jade Hotchkiss 2019-06-06T12:18:55.545407Z Exposure to Loud Noise HIO:0000100 Management of Precipitating Factors Management of Underlying Cause Treatment of Underlying Cause SCDO:1000020 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. Treatment of factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as necessary. Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc. Jade Hotchkiss 2019-06-07T07:38:15.605441Z Treatment of Precipitating Factors HIO:0000101 Subject Characteristics NCIT:C19332 Sufficient The distinguishing qualities or prominent aspects of an individual person. Jade Hotchkiss 2019-06-07T07:38:49.96033Z Personal Attribute HIO:0000102 Aged Chronological Age Postnatal Age NCIT:C25150 Sufficient Could add many sub-classes of "Age" from NCIT. How long something has existed; elapsed time since birth. Jade Hotchkiss 2019-06-07T07:39:04.605464Z Age HIO:0000103 Acute Emergence Over Minutes Sudden Onset over Minutes HP:0025306 Sufficient Acute appearance of disease manifestations in a period of minutes. Jade Hotchkiss 2019-08-14T09:07:48.978223Z Acute Onset over Minutes HIO:0000104 Acute Emergence Over Hours Sudden Onset over Hours HP:0025307 Sufficient Acute appearance of disease manifestations in a period of hours. Jade Hotchkiss 2019-08-14T09:07:48.979067Z Acute Onset over Hours HIO:0000105 Acute Emergence Over Days Sudden Onset over Days HP:0025308 Sufficient Acute appearance of disease manifestations in a period of hours. Jade Hotchkiss 2019-08-14T09:08:15.546154Z Acute Onset over Days HIO:0000106 Unknown Cause of Disease Unknown Disease Cause None Request inclusion into existing ontology HIO (Jade Hotchkiss) When the cause of a disease is unknown. Jade Hotchkiss 2019-06-07T09:38:07.206007Z Unknown Etiology HIO:0000107 Onset in Adulthood Symptoms Begin in Adulthood HP:0003581 Sufficient Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Jade Hotchkiss 2019-08-14T10:21:13.325265Z Adult Onset HIO:0000108 BAO:0170001 Sufficient The molecular characteristics of a cell of tissue including expressed coding and non-coding RNAs, proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment. Jade Hotchkiss 2019-06-07T11:06:20.029935Z Molecular Phenotype HIO:0000109 SCDO:0009613 Sufficient SCDO to request inclusion into BioAssayontology. Update at a later stage if necessary. The physical characteristics and levels of proteins that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment. Jade Hotchkiss 2019-06-07T11:06:43.951718Z Protein Phenotype HIO:0000110 Jade Hotchkiss 2019-06-07T11:07:05.334142Z Abnormal Protein HIO:0000111 CRISP:0977-5562 Sufficient Wearable sound-amplifying devices that are intended to compensate for impaired hearing; devices include air-conduction hearing aids and bone-conduction hearing aids. Jade Hotchkiss 2019-06-10T08:26:53.430403Z Hearing Aid HIO:0000112 None HIO (Samuel Mawuli Adadey) A mechanical instrument attached to the head, near the ear(s), that helps individuals who are deaf to detect and interpret sounds through their sense of touch. It is called a vibrotactile aid because it serves as an aid by permitting a person to feel the vibrations, in this case, of sounds. Jade Hotchkiss 2019-06-10T08:26:53.431183Z Vibrotactile Device HIO:0000113 Habilitation MESH:D012046 Sufficient Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury. Jade Hotchkiss 2019-06-10T08:31:00.270694Z Rehabilitation HIO:0000114 Jade Hotchkiss 2019-06-10T08:32:43.334019Z Speech Therapy HIO:0000115 Jade Hotchkiss 2019-06-10T08:36:15.939573Z Improvement of Communication Skills HIO:0000116 Jade Hotchkiss 2019-06-10T08:37:01.514685Z Sign Language HIO:0000117 Jade Hotchkiss 2019-06-10T08:37:36.381138Z Lip Reading HIO:0000118 DNA Therapy NCIT:C15238 Sufficient Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease. Jade Hotchkiss 2019-06-10T08:42:38.190718Z Gene Therapy HIO:0000119 ERO:0000378 Sufficient A material processing technique that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury or to help improve bodily function or appearance. Jade Hotchkiss 2019-06-10T08:57:23.649106Z Surgery HIO:0000120 Otologic Surgical Procedure MESH:D013506 Sufficient Surgery performed on the external, middle, or internal ear. Jade Hotchkiss 2019-06-10T08:57:23.649868Z Otologic Surgery HIO:0000121 Cosmetic Surgery MESH:D013518 The branch of surgery concerned with restoration, reconstruction, or improvement of defective, damaged, or missing structures. Jade Hotchkiss 2019-06-10T08:57:23.650596Z Plastic Surgery HIO:0000122 Jade Hotchkiss 2019-06-10T08:57:23.651309Z Cleft Palate Surgery HIO:0000123 Jade Hotchkiss 2019-06-10T08:57:23.652035Z Cleft Lips Surgery HIO:0000124 Jade Hotchkiss 2019-06-10T08:57:23.652737Z Craniofacial Surgery HIO:0000125 Jade Hotchkiss 2019-06-10T08:57:23.653449Z Branchial Cysts and Fistula Surgery HIO:0000126 Anti-arrhythmic Agent Antiarrhythmic Agent Cardiac Depressant NCIT:C47793 Sufficient Agents used for the treatment or prevention of cardiac arrhythmias; they may effect the polarization-repolarization phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibers. Jade Hotchkiss 2019-06-10T09:15:09.499661Z Antiarrhythmic Drug HIO:0000127 Beta-Adrenergic Antagonist Beta-Adrenergic Blocker Beta-Adrenergic Blockers Beta-Adrenergic Receptor Blockaders Beta-Adrenoceptor Antagonists Beta-Blocker Beta-Blockers CHEBI:35530 Sufficient An agent that binds to but does not activate beta-adrenergic receptors thereby blocking the actions of endogenous or exogenous beta-adrenergic agonists. beta-Adrenergic antagonists are used for treatment of hypertension, cardiac arrhythmias, angina pectoris, glaucoma, migraine headaches and anxiety. Jade Hotchkiss 2019-06-10T09:16:39.394472Z Beta-Adrenergic Blocker HIO:0000128 HRT MESH:D020249 Sufficient Therapeutic use of hormones to alleviate the effects of hormone deficiency. Jade Hotchkiss 2019-06-10T09:23:22.240391Z Hormone Replacement Therapy HIO:0000129 Replacements, Estrogen MESH:D01591 Sufficient The use of hormonal agents with estrogen-like activity in postmenopausal or other estrogen-deficient women to alleviate effects of hormone deficiency, such as vasomotor symptoms, dyspareunia, and progressive development of osteoporosis. This may also include the use of progestational agents in combination therapy. Jade Hotchkiss 2019-06-10T09:26:40.353276Z Estrogen Replacement Therapy HIO:0000130 Cochlear Implantations Cochlear Prosthesis Implantation Cochlear Prosthesis Implantations Prosthesis Implantation, Cochlear MESH:D019929 Sufficient Surgical insertion of an electronic hearing device (cochlear implants) with electrodes to the cochlear nerve in the inner ear to create sound sensation in patients with residual nerve fibers. Jade Hotchkiss 2019-06-10T09:31:58.774938Z Cochlear Implantation HIO:0000131 Thyroid Surgery Thyroidectomy NCIT:C51648 Sufficient Surgery to remove part or all of the thyroid gland. Jade Hotchkiss 2019-06-10T09:41:28.840806Z Goitre Surgery HIO:0000132 Antithyroid Agent CHEBI:50671 Sufficient A drug used to treat hyperthyroidism by reducing the excessive production of thyroid hormones. Jade Hotchkiss 2019-06-10T09:42:59.275375Z Antithyroid Drug HIO:0000133 Ophthalmologic Surgical Procedures Ophthalmological Surgical Procedure MESH:D013508 Sufficient Surgery performed on the eye or any of its parts. Jade Hotchkiss 2019-06-10T09:50:30.379191Z Ophthalmologic Surgical Procedure Ophthalmologic Surgery HIO:0000134 Jade Hotchkiss 2019-06-10T09:52:03.253478Z Lens Extraction HIO:0000135 Jade Hotchkiss 2019-06-10T09:52:03.254251Z Retinal Prosthesis HIO:0000136 Jade Hotchkiss 2019-06-10T09:53:35.858373Z Optical Aid HIO:0000137 Jade Hotchkiss 2019-06-10T09:54:25.590573Z Eye Drops HIO:0000138 Jade Hotchkiss 2019-06-10T09:56:26.760283Z Orthopaedic Surgery HIO:0000139 Jade Hotchkiss 2019-06-10T10:05:58.670589Z Intestinal Transplantation HIO:0000140 Digestive Surgery Digestive System Operative Procedure Digestive System Surgical Procedure Gastrointestinal Surgical Procedure Gastrointestinal System Operative Procedure Operative Procedure on the Digestive System Operative Procedure on the Gastrointestinal System NCIT:C15330 Sufficient Surgery performed on any part of the digestive system. Jade Hotchkiss 2019-06-10T10:06:10.664753Z Digestive System Surgery HIO:0000141 Jade Hotchkiss 2019-06-10T10:31:18.084801Z Primary Preventative Therapeutics HIO:0000142 Jade Hotchkiss 2019-06-10T10:31:18.08557Z Secondary Preventative Therapeutics HIO:0000143 None HIO (Samuel Mawuli Adadey) Early identification, surveillance, and monitoring of individuals (especially children) for permanent hearing loss. Jade Hotchkiss 2019-06-10T10:37:13.042567Z Audiologic Surveillance HIO:0000144 Newborn Hearing Screening PMC3114997 None HIO (Samuel Mawuli Adadey) Clinical screening of hearing impairment as part of the universal newborn hearing screening. Jade Hotchkiss 2019-06-10T10:37:13.0433Z Clinical Surveillance HIO:0000145 None HIO (Samuel Mawuli Adadey) Referring infants at high risk, such as those with a family history of deafness or those born with low birth weight, birth asphyxia, jaundice or meningitis, for early assessment of hearing, to ensure prompt diagnosis and appropriate management, as required; Jade Hotchkiss 2019-06-10T10:37:13.043981Z Paraclinical Surveillance HIO:0000146 Jade Hotchkiss 2019-06-10T10:41:25.618062Z Identification and Treatment of Superimposed Hearing Loss Aetiologies HIO:0000147 Scleral Buckle Surgery Scleral Bucklings MESH:D012591 Sufficient An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina. Jade Hotchkiss 2019-06-10T11:17:02.63582Z Scleral Buckling HIO:0000148 Prenatal Genetic Counseling MESH:D005817 Sufficient An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Jade Hotchkiss 2019-06-10T10:45:59.617143Z Genetic Counseling HIO:0000149 Newborn Infant Screening MESH:D015997 Sufficient The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. Jade Hotchkiss 2019-06-10T10:48:04.903652Z Neonatal Screening HIO:0000150 None HIO (Samuel Mawuli Adadey) Reducing exposure to environmental risk factors which may be harmful to hearing. Jade Hotchkiss 2019-06-10T10:53:48.414847Z Exposure Avoidance HIO:0000151 None HIO (Samuel Mawuli Adadey) Reducing exposure to both occupational and recreational loud sound. Jade Hotchkiss 2019-06-10T10:54:46.014864Z Avoidance of Noise HIO:0000152 Jade Hotchkiss 2019-06-10T10:54:46.01566Z Avoidance of Radiation Therapy During First Trimester of Pregnancy HIO:0000153 Jade Hotchkiss 2019-06-10T11:06:05.820516Z Early Diagnosis of Precipitating Factors HIO:0000154 None HIO (Samuel Mawuli Adadey) Avoiding the use of particular drugs which may be harmful to hearing, unless prescribed and monitored by a qualified physician Jade Hotchkiss 2019-06-10T11:09:18.070327Z Proper Use of Ototoxic Drugs HIO:0000155 Vitrectomies MESH:D014821 Sufficient Removal of the whole or part of the vitreous body in treating endophthalmitis, diabetic retinopathy, retinal detachment, intraocular foreign bodies, and some types of glaucoma. Jade Hotchkiss 2019-06-10T11:17:02.636611Z Vitrectomy HIO:0000156 SCDO:0000908 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A nonincisional procedure that has become a well-accepted alternative to scleral buckling and vitrectomy for the repair of selected cases of rhegmatogenous retinal detachment. Jade Hotchkiss 2019-06-10T11:19:29.575066Z Pneumatic Retinopexy HIO:0000157 Goniotomies Goniotomy Trabeculoplasties Trabeculoplasty MESH:D014130 Sufficient Any surgical procedure for treatment of glaucoma by means of puncture or reshaping of the trabecular meshwork. It includes goniotomy, trabeculectomy, and laser perforation. Jade Hotchkiss 2019-06-10T11:37:24.863335Z Trabeculectomy HIO:0000158 NCIT:C15466 Sufficient Any procedure in which an intense beam of light is used to cut, burn, or destroy tissue. Jade Hotchkiss 2019-06-10T12:45:48.879769Z Laser Therapy HIO:0000159 NCIT:C15346 Sufficient Administration of vaccines to stimulate the host's immune response. This includes any preparation intended for active immunological prophylaxis or treatment. Jade Hotchkiss 2019-06-10T14:49:22.884714Z Vaccination HIO:0000160 Jade Hotchkiss 2019-06-10T14:58:30.409307Z Adequate Labour and Delivery Monitoring HIO:0000161 Jade Hotchkiss 2019-06-10T14:58:59.008584Z Adequate Pregnancy Monitoring HIO:0000162 Jade Hotchkiss 2019-06-10T15:07:46.624159Z Screening of Relative at Risk HIO:0000163 None HIO (Samuel Mawuli Adadey) Preliminary use of testing procedures or instruments to identify individuals at risk for a particular problem, or in need of a more thorough evaluation, or to determine an individual's suitability for a specific treatment. Jade Hotchkiss 2019-06-10T15:08:01.8496Z Therapeutic Screening HIO:0000164 Jade Hotchkiss 2019-06-10T15:11:18.765042Z Treatment by Phenotye HIO:0000165 Jade Hotchkiss 2019-06-10T15:13:30.595069Z Treatment of Renal Complications HIO:0000166 Jade Hotchkiss 2019-06-10T15:13:30.595842Z Treatment of Dermatologic Complications HIO:0000167 Jade Hotchkiss 2019-06-10T15:13:30.596585Z Treatment of Ophthalmologic Complications HIO:0000168 Jade Hotchkiss 2019-06-10T15:13:30.597334Z Treatment of Endocrine Complications HIO:0000169 Jade Hotchkiss 2019-06-10T15:13:30.598077Z Treatment of Cardiac Complications HIO:0000170 Jade Hotchkiss 2019-06-10T15:13:30.598806Z Treatment of Hearing Loss HIO:0000171 Jade Hotchkiss 2019-06-10T15:18:58.974542Z Congenital Heart Surgery HIO:0000172 ICD ICDs NCIT:C93238 Sufficient A small device used to correct a heartbeat that is abnormal (too fast, too slow, or irregular). The device is placed by surgery in the chest or abdomen. Wires are passed through a vein to connect the device to the heart. When it detects abnormal heartbeats, it sends an electrical shock to the heart to restore the heartbeat to normal. Jade Hotchkiss 2019-06-10T15:22:34.919079Z Implantable Cardioverter Defibrillator HIO:0000173 Jade Hotchkiss 2019-06-10T15:25:18.053603Z Cardioverter Defibrillator Implantation HIO:0000174 Heart Surgery Pericardiotomy CRISP:1397-6326 Sufficient Procedures performed on the heart, used in the treatment of disease, injuries, or deformities. Jade Hotchkiss 2019-06-10T15:31:06.605473Z Cardiac Surgery HIO:0000175 Dialyses, Renal Extracorporeal Dialyses Extracorporeal Dialysis Haemodialysis Hemodialyses Renal Dialyses MESH:D006435 Sufficient Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration. Jade Hotchkiss 2019-06-10T18:35:40.778804Z Renal Dialysis HIO:0000176 Kidney Grafting Kidney Transplantation Kidney Transplantations Renal Transplantation Renal Transplantations MESH:D016030 Sufficient The transference of a kidney from one human or animal to another. Jade Hotchkiss 2019-06-10T18:38:23.42415Z Renal Transplant HIO:0000177 MESH:D017582 Sufficient Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys. Jade Hotchkiss 2019-06-10T18:38:23.424953Z Renal Replacement Therapy HIO:0000178 Jade Hotchkiss 2019-06-10T18:44:06.519854Z Resection and Anastomosis of Intestine HIO:0000179 Jade Hotchkiss 2019-06-10T18:46:48.703708Z Skin Softening Emollients HIO:0000180 Auditory Brain Stem Implantation MESH:D038263 Sufficient Surgical insertion of an electronic hearing device (auditory brain stem implants) with electrodes to the cochlea nucleus in the brain stem rather than to the inner ear as in cochlear implantation. Jade Hotchkiss 2019-06-10T19:02:37.723099Z Auditory Brainstem Implantation HIO:0000181 Cochlear Prosthesis MESH:D003054 Sufficient Electronic hearing devices typically used for patients with normal outer and middle ear function, but defective inner ear function. In the cochlea, the hair cells may be absent or damaged but there are residual nerve fibers. The device electrically stimulates the cochlear nerve to create sound sensation. Jade Hotchkiss 2019-06-10T19:07:21.116032Z Cochlear Implant HIO:0000182 MESH:D038263 Sufficient Surgical insertion of an electronic hearing device (Auditory brain stem implants) with electrodes to the cochlea nucleus in the brain stem rather than to the inner ear as in cochlear implantation. Jade Hotchkiss 2019-06-10T19:19:45.649098Z Auditory Midbrain Implantation HIO:0000183 Jade Hotchkiss 2019-06-10T19:36:26.276464Z Thyroid Hormone Replacement Therapy HIO:0000184 Jade Hotchkiss 2019-06-10T19:41:45.504913Z Testosterone Replacement Therapy HIO:0000185 Endocrine System Drug Endocrinology Drug PMID: 24365354 Few but definitions not available Agents directed to a malfunctioning endocrine path. Jade Hotchkiss 2019-06-10T19:49:16.324675Z Endocrine Drug HIO:0000186 Sodium Insulin MESH:D007328 Sufficient A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (glycogenolysis; gluconeogenesis) and indirectly by suppressing glucagon secretion and lipolysis. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (diabetes mellitus, type 1). Jade Hotchkiss 2019-06-10T19:50:47.249828Z Insulin HIO:0000187 Estrogen Replacement Therapy Estrogen Sulfate Estrogen Sulphate Premarin CRISP:1065-6197 Sufficient Hormones which stimulate the female reproductive organs, and the development of secondary female sex characteristics. Jade Hotchkiss 2019-06-10T19:53:43.564342Z Estrogen HIO:0000188 Thyroid Gland Hormone NCIT:C886 Sufficient Any of several closely related compounds that are produced by the thyroid gland and are active metabolically. Jade Hotchkiss 2019-06-10T19:53:55.978928Z Thyroid Hormone HIO:0000189 4-androsten-17beta-ol-3-one Jade Hotchkiss 2019-06-10T19:54:06.965261Z Testosterone HIO:0000190 Jade Hotchkiss 2019-06-10T19:59:11.100659Z Insulin Therapy HIO:0000191 DDAVP Desmopressine CHEBI:450 Sufficient A synthetic analogue of vasopressin in which 3-mercaptopropionic acid replaces the cysteine residue at position 1 and D-arginine replaces the residue at position 8. An antidiuretic, it increases urine concentration and decreases urine production, and is used (usually as the trihydrate of the acetic acid salt) to prevent and control excessive thirst, urination, and dehydration caused by injury, surgery, and certain medical conditions. It is also used in the diagnosis and treatment of cranial diabetes insipidus and in tests of renal function. Jade Hotchkiss 2019-06-10T20:04:18.520855Z Desmopressin HIO:0000192 Jade Hotchkiss 2019-06-10T20:08:46.518885Z Vasopressin Replacement Therapy HIO:0000193 Craniofacial Dysostosis HP:0004439 Sufficient A characteristic appearance resulting from defective ossification of craniofacial bones. Jade Hotchkiss 2019-06-14T10:39:55.08973Z Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. A characteristic appearance resulting from defective ossification of craniofacial bones. Crouzon Syndrome HIO:0000194 NCIT:C66929 Sufficient Damage to the ear, specifically the cochlea or auditory nerve as a result of some toxic stimulus, eg from a drug. Ototoxicity can result in hearing loss. Jade Hotchkiss 2019-06-14T11:00:46.433799Z Ototoxicity HIO:0000195 Eye Injury Injury of Eye Region NCIT:C34602 Sufficient Damage to the eye. Jade Hotchkiss 2019-06-14T11:00:46.434655Z Ocular Injury HIO:0000196 Ear Anomaly HP:0031704 Sufficient Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. An abnormality of the ear. Jade Hotchkiss 2019-06-14T11:04:30.619622Z Abnormality of the Ear HIO:0000197 Deafness Enamel Hypoplasia Nail Defects Deafness, Enamel Hypoplasia, Nail Defect Syndrome Deafness, Enamel Hypoplasia, Nail Defect Syndrome (Disorder) SNOMEDCT:721085000 Sufficient This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. Jade Hotchkiss 2019-06-14T11:27:29.480154Z Heimler Syndrome HIO:0000198 Age-Related Hearing Loss Senile Deafness MESH:D011304 Sufficient Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies. Jade Hotchkiss 2019-06-14T11:28:11.27961Z Presbycusis HIO:0000199 CAPOS CAPOS Syndrome Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss (CAPOS) Syndrome Sufficient An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. Jade Hotchkiss 2019-06-14T11:40:18.699708Z Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Syndrome HIO:0000200 HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia and Nail Defects PBD1C Peroxisome Biogenesis Disorder 1C Suggest update to description Suggest update to description in OMIM: http://purl.bioontology.org/ontology/OMIM/234580 A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. This form of Heimler Syndrome is caused by homozygous or compound heterozygous mutations in the PEX1 gene (602136) on chromosome 7q21. Jade Hotchkiss 2019-06-14T11:42:40.958647Z Heimler Syndrome 1 HIO:0000201 HMLR2 PBD4C Peroxisome Biogenesis Disorder 4C Suggest update to description Suggest update to description in OMIM: http://purl.bioontology.org/ontology/OMIM/616617 A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. This form of Heimler Syndrome is caused by compound heterozygous mutation in the PEX6 gene (601498) on chromosome 6p21. Jade Hotchkiss 2019-06-14T11:42:40.95982Z Heimler Syndrome 2 HIO:0000202 Jade Hotchkiss 2019-06-14T12:02:48.434014Z Cisplatin HIO:0000203 Physical Assessment MESH:D010808 Sufficient Systematic and thorough inspection of the patient for physical signs of disease or abnormality. Jade Hotchkiss 2019-06-14T12:22:52.239701Z Physical Examination HIO:0000204 E818K Suggest update to description Suggest update to description in OMIM ontology on BioPortal HIO (Jade Hotchkiss) A heterozygous missense mutation in the ATP1A3 gene, where a glutamic acid residue is substituted with a lysine residue at position 818. Jade Hotchkiss 2019-06-14T12:30:32.12598Z Not clear whether this is a loss or gain of function mutation. ATP1A3, GLU818LYS HIO:0000205 IDOMAL:50000026 Sufficient A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene. Jade Hotchkiss 2019-06-14T12:31:32.180131Z Mutation HIO:0000206 Jade Hotchkiss 2019-06-14T12:33:23.100751Z ATP1A3 HIO:0000207 Jade Hotchkiss 2019-06-14T12:34:11.668526Z WFS1 HIO:0000208 Jade Hotchkiss 2019-06-14T12:34:11.669382Z CISD2 HIO:0000209 Jade Hotchkiss 2019-06-14T12:34:11.670206Z FOXC1 HIO:0000210 Jade Hotchkiss 2019-06-14T12:34:11.671012Z EYA4 HIO:0000211 Jade Hotchkiss 2019-06-14T12:34:11.671818Z MYH9 HIO:0000212 Jade Hotchkiss 2019-06-14T12:34:11.672612Z DIAPH1 HIO:0000213 Jade Hotchkiss 2019-06-14T12:34:11.673419Z KCNQ4 HIO:0000214 Onset Before Adulthood HP:0410280 Sufficient Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. Jade Hotchkiss 2019-08-14T10:23:41.245255Z Pediatric Onset HIO:0000215 CIHL Cisplatin-Induced Hearing Loss None HIO (Jade Hotchkiss) Hearing loss caused by cisplatin (a chemotherapeutic agent) ototoxicity. Jade Hotchkiss 2019-06-14T12:45:56.239569Z Cisplatin-Induced Hearing Impairment HIO:0000216 None Request inclusion into existing ontology A cause of disease that is (at least initially) external to the organism and is part of a form of therapy. HIO (Jade Hotchkiss) Jade Hotchkiss 2019-06-14T12:50:20.859558Z Therapeutic Disease Cause HIO:0000217 HP:0001427 Sufficient A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary, this is known as heteroplasmy. Jade Hotchkiss 2019-07-01T12:17:42.699043Z Mitochondrial Inheritance HIO:0000218 Gonosomal Inheritance HP:0010985 Sufficient A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes (X and Y). Jade Hotchkiss 2019-07-01T12:17:42.700176Z Sex-Linked Inheritance HIO:0000219 MEDDRA:10030019 Suggest update to description Suggest update to description in MEDDRA (currently no description). HIO (Jade Hotchkiss) Being in the vicinity of a loud noise at one's place of work such that one is hearing 85 A-weighted decibels (dBA) or more. Jade Hotchkiss 2019-07-02T12:03:19.243225Z Occupational Exposure to Loud Noise HIO:0000220 None Request inclusion into existing ontology HIO (Jade Hotchkiss) Being in the vicinity of a loud noise while taking part in recreational or leisure activities such that one is hearing 85 A-weighted decibels (dBA) or more. Jade Hotchkiss 2019-07-02T12:03:19.244207Z Recreational Exposure to Loud Noise HIO:0000221 NCIT:C35348 Sufficient Trauma to the ear. Jade Hotchkiss 2019-07-02T12:40:18.724174Z Ear Injury HIO:0000222 Inner Ear Injury NCIT:C27160 Suggest update to description (currently no description) Suggest update to description in NCIT (currently no description). HIO (Jade Hotchkiss) Damage to the inner ear. Jade Hotchkiss 2019-07-02T12:44:38.274614Z Injury of Inner Ear HIO:0000223 Blast Injury NCIT:C50453 Sufficient Injury to the hearing mechanisms within the inner ear, caused by excessively loud noise. Jade Hotchkiss 2019-07-02T12:46:54.777194Z Acoustic Trauma HIO:0000224 NCIT:C78378 Sufficient Damage to the ear during a surgical procedure. Jade Hotchkiss 2019-07-02T12:48:31.048909Z Intraoperative Ear Injury HIO:0000228 Pseudodominance Pseudodominant Inheritance None Suggest inclusion into HPO HIO (Jade Hotchkiss) When the inheritance of a recessive trait mimics a dominant pattern of inheritance. Jade Hotchkiss 2019-07-17T14:55:08.318465Z Pseudo-Dominant Inheritance HIO:0000230 HP:0001426 Sufficient A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. Jade Hotchkiss 2019-07-17T14:58:46.068393Z Multifactorial Inheritance HIO:0000231 KCNQ1 Gene DTO:01200232 Sufficient This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. Jade Hotchkiss 2019-07-18T08:17:56.932257Z KCNQ1 HIO:0000232 KCNE1 Gene DTO:01200196 Sufficient The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. Jade Hotchkiss 2019-07-18T08:18:44.749515Z KCNE1 HIO:0000233 Hearing Impairment by Ear None HIO (Jade Hotchkiss) The classification of hearing impairments according to the ear that is involved in the hearing impairment. Jade Hotchkiss 2019-09-02T09:17:42.281181Z Hearing Impairment by Ear Affected HIO:0000234 Autosomal Dominant Nonsyndromic Deafness Nonsyndromic Deafness, Autosomal Dominant DOID:0050564 Sufficient Add synonyms and sub-classes of "autosomal dominant nonsyndromic deafness" from MONDO (see dc:source) A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. Jade Hotchkiss 2019-07-18T08:28:01.474936Z Nonsyndromic Hearing Impairment, Autosomal Dominant HIO:0000235 Autosomal Recessive Nonsyndromic Deafness Nonsyndromic Deafness, Autosomal Recessive DOID:0050565 Sufficient Add synonyms and sub-classes of "autosomal recessive nonsyndromic deafness" from MONDO (see dc:source) A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. Jade Hotchkiss 2019-07-18T08:32:40.345823Z Nonsyndromic Hearing Impairment, Autosomal Recessive HIO:0000236 Nonsyndromic Deafness, X-Linked X-linked Deafness X-linked Nonsyndromic Deafness DOID:0050566 Sufficient A nonsyndromic deafness characterized by an X-linked inheritance mode. Jade Hotchkiss 2019-07-18T08:36:58.125429Z Nonsyndromic Hearing Impairment, X-Linked HIO:0000237 Jade Hotchkiss 2019-07-18T08:36:58.126777Z Nonsyndromic Hearing Impairment, Mitochondrial HIO:0000239 Aminoglycoside Induced Hearing Impairment Aminoglycoside Induced Hearing Loss Aminoglycoside-Induced Hearing Loss HP:0011975 Sufficient Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. Jade Hotchkiss 2019-07-19T07:59:36.111631Z Aminoglycoside-Induced Hearing Impairment HIO:0000240 Aminoglycoside Agent Aminoglycoside Antibiotic Aminoglycoside Drug NCIT:C2363 Sufficient Any antibiotic containing amino-modified sugars originally isolated from various Streptomyces and Micromonospora species. Aminoglycoside antibiotics bind to the 16S RNA of the bacterial 30S ribosomal subunit, inhibiting translation and protein synthesis. Aminoglycoside use is associated with ototoxicity, neurotxicity and nephrotoxicity. Jade Hotchkiss 2019-07-19T08:02:57.830511Z Aminoglycoside HIO:0000241 Jade Hotchkiss 2019-07-19T08:09:44.47895Z TPMT HIO:0000242 Jade Hotchkiss 2019-07-19T08:09:44.480177Z COMT HIO:0000243 Rubella Syndrome, Congenital MESH:D012410 Sufficient Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. Jade Hotchkiss 2019-07-19T08:20:16.061688Z Rubella Syndrome HIO:0000244 German Measles Measles Rubella Rubella Infection Three-Day Measles NCIT:C85051 Sufficient A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. Jade Hotchkiss 2019-07-19T08:32:04.029976Z Rubella Infection HIO:0000245 EDS with Progressive Kyphoscoliosis, Myopathy, and Deafness EDS with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss EDS, Kphoscoliotic and Hearing Loss Type EDSKMH EDSKSCL2 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Deafness Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 Ehlers-Danlos Syndrome, Kyphoscoliotic and Hearing Loss Type Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss ORPHA:300179 Suggest update to description Suggest update to description in Orphanet, removing the name of the term from the start of the description. A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. Jade Hotchkiss 2019-07-19T08:40:12.504522Z Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type HIO:0000246 Jade Hotchkiss 2019-07-19T09:32:09.586768Z FKBP14 HIO:0000247 Jade Hotchkiss 2019-07-19T09:32:09.587862Z MYH14 HIO:0000248 PNMHH Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ORPHA:397744 Suggest update to description Suggest update to description in Orphanet, removing the name of the term from the start of the description. A rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. Jade Hotchkiss 2019-07-19T09:35:39.359326Z Caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13. One such family has been reported. Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Syndrome HIO:0000249 X-Linked X-Linked Form HP:0001417 Sufficient A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Jade Hotchkiss 2019-07-24T09:34:22.65492Z X-Linked Inheritance HIO:0000250 Y-Linked Y-Linked Form HP:0001450 Sufficient A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. Jade Hotchkiss 2019-07-24T09:34:22.658607Z Y-Linked Inheritance HIO:0000251 Jade Hotchkiss 2019-07-24T11:46:24.654775Z ABHD12 HIO:0000252 Genome Encoded Entity NCIT:C26548 Sufficient If additional gene products are included in the future, they can be categorised according to those below this term in the "National Cancer Institute Thesaurus" (NCIT) A protein, RNA or a complex that contains proteins and/or RNA. Jade Hotchkiss 2019-07-30T09:13:13.960072Z Gene Product HIO:0000253 Abnormal Auditory/ Vestibular System Morphology Abnormal Ear Development/ Ear Malformation Auditory/ Vestibular System Abnormalities; Auditory/ Vestibular System Defects Ear Dysplasia Ears: Dysmorphology MP:0002102 Sufficient Any structural anomaly of any of the structures involved in the ear or vestibular system. Jade Hotchkiss 2019-07-30T12:52:49.034438Z Abnormal Ear Morphology HIO:0000254 Middle Ear Dysplasia MP:0000049 Sufficient Any structural anomaly of any components of the tympanic cavity or its ossicles. Jade Hotchkiss 2019-07-30T13:04:50.765797Z Abnormal Middle Ear Morphology HIO:0000255 Abnormal Drum Membrane Morphology Abnormal Eardrum Morphology Abnormal Membrane Tympani Morphology Abnormal Myringa Morphology Abnormal Myrinx Morphology MP:0006018 Sufficient Any structural anomaly of the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane constitutes the boundary between the external and middle ear. Jade Hotchkiss 2019-07-30T13:29:29.068037Z Abnormal Tympanic Membrane Morphology HIO:0000256 Eardrum Perforation Perforated Eardrum Perforated Tympanic Membrane Ruptured Eardrum Tympanic Membrane Rupture MP:0030414 Sufficient Presence of a hole or tear in the tympanic membrane (eardrum). Jade Hotchkiss 2019-07-30T13:33:48.264414Z Tympanic Membrane Perforation HIO:0000257 Abnormal Pinna Morphology Dysplastic Pinna Outer Ear Dysplasia MP:0002177 Sufficient Any structural anomaly of any components of the auricles or external acoustic meatus. Jade Hotchkiss 2019-07-30T13:38:56.292997Z Abnormal Outer Ear Morphology HIO:0000258 Abnormal External Meatus MP:0006033 Sufficient Any structural anomaly of the canal that connects the outer and middle ear. Jade Hotchkiss 2019-07-30T13:44:44.850321Z Abnormal External Auditory Canal Morphology HIO:0000259 Cerumen Impaction Ear Wax Accumulation Ear Wax Buildup Earwax Blockage Earwax Buildup Excessive Cerumen Excessive Ear Wax Excessive Earwax MP:0030419 Sufficient Excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal. Jade Hotchkiss 2019-07-30T13:54:53.749936Z Excessive Cerumen in Ear Canal HIO:0000260 Temporary Deafness Temporary Hearing Loss Transitory Deafness Few but definitions not freely available HIO (Jade Hotchkiss) A decreased magnitude of the sensory perception of sound that is not permanent. Jade Hotchkiss 2019-07-30T14:06:51.494209Z Temporary Hearing Impairment HIO:0000261 Deafness Permanent Permanent Deafness Permanent Hearing Loss Few but definitions not specific enough HIO (Jade Hotchkiss) A decreased magnitude of the sensory perception of sound that is permanent. Jade Hotchkiss 2019-07-30T14:13:51.933686Z Permanent Hearing Impairment HIO:0000262 NCIT:C53288 Sufficient Not permanent; not lasting; lacking continuity or regularity. Jade Hotchkiss 2019-08-14T11:47:47.823533Z Temporary HIO:0000263 Ear Blockage None HIO (Jade Hotchkiss) Blockage of a part of the ear. Jade Hotchkiss 2019-07-30T14:30:48.074846Z Ear Obstruction HIO:0000264 External Ear Canal Blockage None HIO (Jade Hotchkiss) Blockage in the external ear canal due to cerumen (wax) build-up, hematoma (blood collection), or a foreign body in the ear canal. Jade Hotchkiss 2019-07-30T14:34:59.264517Z External Ear Canal Obstruction HIO:0000265 Jade Hotchkiss 2019-07-30T14:38:00.785265Z Careful Manual Removal of Obstruction HIO:0000266 Ear Irrigation Irrigation of External Auditory Canal Syringing of Ear Few but definitions not freely available HIO (Jade Hotchkiss) The use of water to flush out ear wax. The water may be combined with an agent to soften the ear wax. Jade Hotchkiss 2019-07-30T14:45:18.296496Z Irrigation of Ear HIO:0000267 Symptoms Begin in Childhood HP:0011463 Sufficient Onset of disease at the age of between 1 and 5 years. This term refers to ages up to but not including the fifth birthday (see Juvenile onset). Jade Hotchkiss 2019-08-14T10:25:49.538379Z Childhood Onset HIO:0000268 Few but definitions not freely available HIO (Jade Hotchkiss) When an object from the environment has inadvertently entered and lodged in the ear canal. Jade Hotchkiss 2019-07-31T12:15:16.799027Z Foreign Body in Ear Canal HIO:0000269 None HIO (Jade Hotchkiss) Damage to the middle ear. Jade Hotchkiss 2019-07-31T12:41:09.383982Z Injury of Middle Ear HIO:0000270 Abnormal Separation of Middle Ear B-ones Dislocation of Ear Ossicle Ossicular Chain Discontinuity Ossicular Chain Dislocation Suggest update to description Suggest update to description in MONDO A separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Jade Hotchkiss 2019-07-31T12:41:57.573287Z Ossicular Dislocation HIO:0000271 Middle Ear Infection HP:0000388 Sufficient Possibly include sub-classes from HPO Inflammation or infection of the middle ear. Jade Hotchkiss 2019-07-31T12:48:04.045012Z Otitis Media HIO:0000272 HP:0410017 Sufficient Inflammation or infection of the external auditory canal (EAC), the auricle, or both. Jade Hotchkiss 2019-07-31T13:23:41.689596Z Otitis Externa HIO:0000273 Eardrum Retraction Retracted Eardrum Retracted Tympanic Membrane MP:0030413 Sufficient A condition in which a segment of the tympanic membrane (eardrum) collapses inwards towards the middle ear space and lies more medially (deeper) than its normal position; the retracted segment is often known as a retraction pocket. Jade Hotchkiss 2019-07-31T13:26:13.507942Z Tympanic Membrane Retraction HIO:0000274 Pressure Trauma MESH:D001469 Sufficient Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach. Jade Hotchkiss 2019-07-31T13:41:03.049479Z Barotrauma HIO:0000275 MESH:D001753 Sufficient Injury resulting when a person is struck by particles impelled with violent force from an explosion. Blast causes pulmonary concussion and hemorrhage, laceration of other thoracic and abdominal viscera, ruptured ear drums, and minor effects in the central nervous system. (From Dorland, 27th ed) Jade Hotchkiss 2019-07-31T13:45:20.768154Z Blast Injury HIO:0000276 Injury of Head NCIT:C34660 Sufficient A traumatic injury to the head. Jade Hotchkiss 2019-07-31T13:53:27.775007Z Head Injury HIO:0000277 Fracture of Temporal Bone Few but definitions not freely available HIO (Jade Hotchkiss) Traumatic injury to the temporal bone in which the continuity of the bone is broken. Jade Hotchkiss 2019-08-01T07:02:17.649973Z Temporal Bone Fracture HIO:0000278 Garamicin Garamycin Genoptic Genoptic S.O.P. Gentamycin Gentamycin Complex U-Gencin NCIT:C519 Sufficient A broad-spectrum aminoglycoside antibiotic produced by fermentation of Micromonospora purpurea or M. echinospora. Gentamicin is an antibiotic complex consisting of four major (C1, C1a, C2, and C2a) and several minor components. This agent irreversibly binds to the bacterial 30S ribosomal subunit. Specifically, this antibiotic is lodged between 16S rRNA and S12 protein within the 30S subunit. This leads to interference with translational initiation complex, misreading of mRNA, thereby hampering protein synthesis and resulting in bactericidal effect. Aminoglycosides are mostly ineffective against anaerobic bacteria, fungi and viruses. Jade Hotchkiss 2019-08-01T07:09:06.598586Z Gentamicin HIO:0000279 Antibiotic Agents Antibiotic Drug Antibiotic Drugs Antibiotics Antimicrobial Antimicrobial Agent NCIT:C258 Sufficient Substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30S or 50S ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections. Jade Hotchkiss 2019-08-01T07:21:03.213903Z Antibiotic HIO:0000280 NCIT:C925 Sufficient A branched tricyclic glycosylated peptide with bactericidal activity against most organisms and bacteriostatic effect on enterococci. At a site different from that of penicillins and cephalosporins, vancomycin binds tightly to the D-alanyl-D-alanine portion of cell wall precursors, thereby interfering with bacterial cell wall synthesis. This leads to activation of bacterial autolysins that destroy the cell wall by lysis. Vancomycin may also alter the permeability of bacterial cytoplasmic membranes and may selectively inhibit RNA synthesis. Jade Hotchkiss 2019-08-01T07:23:19.718945Z Vancomycin HIO:0000281 NCIT:C61101 Sufficient One of a class of antibiotics originally isolated from plant and soil bacteria with structures containing either a glycosylated cyclic or polycyclic nonribosomal peptide. These antibiotics inhibit the cell wall structure of susceptible organisms (principally Gram-positive cocci) by inhibiting peptidoglycan synthesis. First-generation glycopeptide antibiotics include vancomycin, teicoplanin, and ramoplanin; second-generation semi-synthetic glycopeptide antibiotics include oritavancin, dalbavancin, and telavancin. Jade Hotchkiss 2019-08-01T07:39:10.094007Z Glycopeptide Antibiotic HIO:0000282 Abomacetin Emgel Eritromicina Erymax Erythrocin Erythromycin A Erythromycine Erythromycinum N-methylerythromycin A ARO:0000006 Sufficient Erythromycin is a macrolide antibiotic with a 14-carbon ring that has an antimicrobial spectrum similar to or slightly wider than that of penicillin, and is often used for people that have an allergy to penicillins. Erythromycin may possess bacteriocidal activity, particularly at higher concentrations by binding to the 50S subunit of the bacterial 70S rRNA complex, inhibiting peptidyl-tRNA translocation. Thus, protein synthesis and subsequently structure/function processes critical for life or replication are inhibited. Jade Hotchkiss 2019-08-01T07:45:46.53341Z Erythromycin HIO:0000283 NCIT:C1595 Sufficient Any of a group of broad spectrum naphthacene antibiotics isolated from various species of Streptomyces or produced semisynthetically. In bacteria, tetracycline antibiotics block binding of aminoacyl-tRNA to the mRNA-ribosome complex, thereby inhibiting protein synthesis. (NCI05) Jade Hotchkiss 2019-08-01T07:48:44.538489Z Tetracycline Antibiotic HIO:0000284 NCIT:C683 Sufficient A broad spectrum aminoglycoside antibiotic derived from Streptomyces fradiae with antibacterial activity. Neomycin is an antibiotic complex consisting of 3 components: the two isomeric components B and C are the active components, and neomycin A is the minor component. Neomycin irreversibly binds to the 16S rRNA and S12 protein of the bacterial 30S ribosomal subunit. As a result, this agent interferes with the assembly of initiation complex between mRNA and the bacterial ribosome, thereby inhibiting the initiation of protein synthesis. In addition, neomycin induces misreading of the mRNA template and causes translational frameshift, thereby results in premature termination. This eventually leads to bacterial cell death. Jade Hotchkiss 2019-08-01T08:27:40.961313Z Neomycin HIO:0000285 Neomycin-Induced Hearing Loss None Request inclusion into HPO below "Aminoglycoside-Induced Hearing Loss" HIO (Jade Hotchkiss) Partial or complete loss of hearing following ingestion of neomycin. Jade Hotchkiss 2019-08-01T08:30:41.100357Z Neomycin-Induced Hearing Impairment HIO:0000286 Minocin Few but definitions not specific enough HIO (Jade Hotchkiss) A tetracycline antibiotic used to treat many different bacterial infections, such as urinary tract infections, respiratory infections, skin infections, severe acne, chlamydia, tick fever, and others. It is also used for gonorrhoea, syphilis, and other infections as a second-line drug in those with a penicillin allergy. Jade Hotchkiss 2019-08-01T08:35:33.730052Z Minocycline reduces but does not completely eliminate neomycin induced hearing loss. Minocycline HIO:0000287 Otic Capsule-Disrupting Fracture Otic Capsule-Involvement Fracture Otic Capsule-Violating Fracture None HIO (Jade Hotchkiss) Traumatic injury to the temporal bone in which the continuity of the bone is broken and violation of the otic capsule is involved. Jade Hotchkiss 2019-08-01T08:50:08.938307Z Fractures that disrupt the otic capsule will almost always result in a sensorineural hearing loss (SNHL) and are associated with a much higher incidence of facial nerve paralysis, nerve disruption, CSF fistula, and intracranial complications as compared with otic capsule sparing fractures.1 13 14 15 16 17 Otic capsule sparing fractures usually cause a conductive or mixed hearing loss. Temporal Bone Fracture with Otic Capsule Involvement HIO:0000288 Otic Capsule-Sparing Fracture None HIO (Jade Hotchkiss) Traumatic injury to the temporal bone in which the continuity of the bone is broken and violation of the otic capsule is not involved. Jade Hotchkiss 2019-08-01T09:00:41.814315Z Temporal Bone Fracture without Otic Capsule Involvement HIO:0000289 NCIT:C448 Sufficient A class of agents that increases the production of urine by the kidney. Via various mechanism of actions, diuretics retain water in urine, thus provides a means of forced diuresis. Jade Hotchkiss 2019-08-01T09:05:28.281113Z Diuretic HIO:0000290 FRS LB 502 Lasix NCIT:C515 Sufficient A sulfamoylanthranilic acid derivative, also known as frusemide, and potent loop diuretic. Furosemide is widely used to treat hypertension and edema. This agent is highly bound to albumin and is largely excreted unchanged in the urine. Jade Hotchkiss 2019-08-01T09:08:10.193462Z Can cause Sensorineural Hearing Loss Furosemide HIO:0000291 EA Edecrin [2,3-Dichloro-4-(2-methylene-1-oxobutyl)phenoxy]acetic Acid NCIT:C485 Sufficient An unsaturated ketone derivative of aryloxyacetic acid without a sulfonamide substituent belonging to the class of loop diuretics. Ethacrynic acid is extensively bound to plasma proteins; both ethacrynic acid in its unchanged form as well as its metabolites are excreted in bile and urine. Jade Hotchkiss 2019-08-01T09:13:35.819811Z Can cause Sensorineural Hearing Loss Ethacrynic Acid HIO:0000292 Acoustic Neurilemmoma MESH:D009464 Sufficient A benign schwannoma of the eighth cranial nerve (vestibulocochlear nerve), mostly arising from the vestibular branch (vestibular nerve) during the fifth or sixth decade of life. Clinical manifestations include hearing loss; headache; vertigo; tinnitus; and facial pain. Bilateral acoustic neuromas are associated with neurofibromatosis 2. Jade Hotchkiss 2019-08-01T09:25:38.285706Z Acoustic Neuroma HIO:0000293 EFO:0000618 Sufficient A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. a general class of medical conditions affecting the nervous system. Jade Hotchkiss 2019-09-02T12:03:42.215364Z Nervous System Disease HIO:0000294 SCDO:1000106 Sufficient Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or double heterozygosity for the sickle gene and another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations. Jade Hotchkiss 2019-08-02T09:42:04.30967Z Sickle Cell Disease HIO:0000295 HP:0000819 Sufficient A group of abnormalities characterized by hyperglycemia and glucose intolerance. Jade Hotchkiss 2019-08-02T09:42:04.310992Z Diabetes Mellitus HIO:0000296 DOID:1240 Sufficient A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. Jade Hotchkiss 2019-08-02T09:42:04.312244Z Leukemia HIO:0000297 Erythrocytosis Increased Red Blood Cells Polycythaemia Polyglobulia HP:0001901 Sufficient Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Jade Hotchkiss 2019-08-02T09:42:04.313482Z Polycythemia HIO:0000298 BADS Black Lock-Albinism-Deafness Syndrome (BADS) O'Doherty Syndrome Pigmentary Disorder with Hearing Loss ORPHA:999 Sufficient Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. Jade Hotchkiss 2019-08-02T10:26:01.339433Z Ermine Phenotype HIO:0000299 Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome MPMCHD Mitochondrial Complex Deficiency, Combined Myopathy with Cataract and Combined Respiratory-Chain Deficiency Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay ORPHA:330054 Suggest update to description Suggest update to description in ORDO (remove name of syndrome from start of description) A rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Jade Hotchkiss 2019-08-02T10:42:38.691316Z Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay HIO:0000300 Jade Hotchkiss 2019-08-02T10:51:36.251567Z DLX5 HIO:0000301 SHFM1D Split Hand, Split Foot Malformation with Sensorineural Hearing Loss Syndrome Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss Split-Hand/Foot Malformation-1 with Sensorineural Hearing Loss (SHFM1D) SNOMEDCT:723611008 Sufficient An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. Jade Hotchkiss 2019-08-02T10:57:48.029889Z Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss HIO:0000302 Jade Hotchkiss 2019-08-02T11:03:45.591925Z IARS2 HIO:0000303 CAGSSS Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome Few but definitions not freely available HIO (Jade Hotchkiss) An autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. It comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, but not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD). Jade Hotchkiss 2019-08-02T11:17:50.40585Z Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Syndrome HIO:0000304 NCIT:C61768 Sufficient A synthetic lipid-lowering agent with antilipidemic and potential antineoplastic properties. Fluvastatin competitively inhibits hepatic 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate, a key step in cholesterol synthesis. This agent lowers plasma cholesterol and lipoprotein levels, and modulates immune responses through the suppression of MHC II (major histocompatibility complex II) on interferon gamma-stimulated antigen-presenting cells such as human vascular endothelial cells. Due to its anti-inflammatory effects mediated by alterations of lipid metabolism, fluvastatin may possess chemopreventive and therapeutic antineoplastic properties. Jade Hotchkiss 2019-08-06T08:52:56.635927Z Been shown to protects cochleae from damage by high-level noise. Fluvastatin HIO:0000305 Jade Hotchkiss 2019-08-06T12:40:15.918665Z ADCY1 HIO:0000306 Genetic Loci Loci, Genetic Locus, Genetic MESH:D056426 Sufficient A specific region that is mapped within a genome. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or hereditary disease. Jade Hotchkiss 2019-08-06T12:46:59.460543Z Genetic Locus HIO:0000307 AUNA1 Autosomal Dominant Auditory Neuropathy 1 DOID:0060690 Sufficient An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. Jade Hotchkiss 2019-08-06T14:08:35.654315Z Nonsyndromic Dominant Auditory Neuropathy HIO:0000308 AUNA1 DIA2 DIAP3 Diaphanous-Related Formin 3 Protein-Coding Gene NSDAN diap3 NCBIGene:81624 Sufficient The protein-coding gene DIAPH3 (diaphanous-related formin 3) located on the chromosome 13 mapped at 13q21.2. Jade Hotchkiss 2019-08-06T14:11:47.698765Z DIAPH3 HIO:0000309 Jade Hotchkiss 2019-08-06T15:01:22.10918Z COL4A5 HIO:0000310 Jade Hotchkiss 2019-08-06T15:06:29.86976Z COL4A3 HIO:0000311 Jade Hotchkiss 2019-08-06T15:06:29.870832Z COL4A4 HIO:0000312 Jade Hotchkiss 2019-08-06T18:15:55.950721Z ILDR1 HIO:0000313 Suggest update to description Suggest update to description in NCIT (no current description) HIO (Jade Hotchkiss) An clinical adjectival term used to specify and describe a disease appearance or processes. Jade Hotchkiss 2019-08-14T11:19:38.669685Z Disease Clinical Qualifier HIO:0000315 Worsens With Time NCIT:C25254 Sufficient Advancing in extent or severity. Jade Hotchkiss 2019-08-14T11:24:50.273217Z Progressive HIO:0000316 Isolated Postlingual Genetic Deafness Postlingual Non-Syndromic Genetic Deafness Postlingual Non-Syndromic Genetic Hearing Impairment Postlingual Nonsyndromic Genetic Deafness Orphanet:216452 Sufficient Perhaps add sub-classes of "Postlingual non-syndromic genetic deafness" from the EFO. Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. Jade Hotchkiss 2019-08-06T18:52:11.316103Z Postlingual Nonsyndromic Genetic Hearing Impairment HIO:0000317 Isolated Prelingual Genetic Deafness Prelingual Non-Syndromic Genetic Deafness Prelingual Non-Syndromic Genetic Hearing Impairment Prelingual Nonsyndromic Genetic Deafness Orphanet:216445 Sufficient Perhaps add sub-classes of "Prelingual non-syndromic genetic deafness" from the EFO. Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. Jade Hotchkiss 2019-08-06T18:55:49.0247Z Prelingual Nonsyndromic Genetic Hearing Impairment HIO:0000318 Constitutitional Genetic Familial Genetic Hereditary MONDO:0021152 Sufficient A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. Jade Hotchkiss 2019-08-14T11:36:23.898894Z Inherited HIO:0000319 MONDO:0021136 Sufficient A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Here we take the European definition to be consistent with Orphanet. Jade Hotchkiss 2019-08-14T11:38:53.675159Z Rare HIO:0000320 NCIT:C160628 Sufficient Continuing or enduring over time, without fundamental or marked change. Jade Hotchkiss 2019-08-14T11:45:54.114801Z Permanent HIO:0000321 None Request inclusion into NCIT as a sub-class of "Personal Medical History". HIO (Jade Hotchkiss) A record of an individual's history of mumps. Jade Hotchkiss 2019-08-16T12:27:00.585053Z Personal History of Mumps HIO:0000322 None Request inclusion into NCIT as a sub-class of "Personal Medical History". HIO (Jade Hotchkiss) A record of an individual's history of chronic ear infections. Jade Hotchkiss 2019-08-16T12:28:18.545472Z Personal History of Chronic Ear Infections HIO:0000323 Sensorineural Hearing Impairment with Childhood Onset HP:0011474 Suggest update to description Suggest update to description in HPO Sensorineural hearing impairment that begins manifesting at the age of between 1 and 5 years (not including the fifth birthday). Jade Hotchkiss 2019-08-06T19:56:11.839411Z Childhood Onset Sensorineural Hearing Impairment HIO:0000324 Jade Hotchkiss 2019-08-06T19:59:07.675833Z GRXCR2 HIO:0000325 Autosomal Recessive Deafness 101 Autosomal Recessive Nonsyndromic Deafness 101 Autosomal Recessive Nonsyndromic Deafness Caused by Mutation in GRXCR2 Autosomal Recessive Nonsyndromic Deafness Type 101 DFNB101 Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive Type 101 Deafness, Autosomal Recessive, 101 GRXCR2 Autosomal Recessive Nonsyndromic Deafness MONDO:0014363 Sufficient Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. Jade Hotchkiss 2019-08-06T20:02:04.044833Z A prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Autosomal Recessive Nonsyndromic Hearing Impairment 101 HIO:0000326 Current Chronological Age SDO:CurrentChronologicalAge Sufficient Current age of a patient calculated using the current date and the patient's date of birth. Jade Hotchkiss 2019-08-07T11:46:16.135032Z Current Age HIO:0000327 SCDO:0000056 Sufficient SCDO to request inclusion into MESH. Update at a later stage if necessary. The PhenX protocol is U.S. specific. Is there one relevant to the African setting? --> also asked in SCDO PhenX protocol: Annual Family Income #11101 The respondent's total family income from the last calendar year. Jade Hotchkiss 2019-08-07T11:47:21.609651Z Annual Family Income HIO:0000329 Place of Birth SCDO:0000123 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. The country in which the respondent was born. Jade Hotchkiss 2019-08-07T11:52:21.093415Z Birthplace HIO:0000330 Clinical Study Subject Unique Identifier Clinical Trial Subject Unique Identifier Research Subject ID Subject Identification Code Subject Unique Identifier Subject's Unique Identifier USUBJID NCIT:C70731 Sufficient A unique identifier assigned to each clinical trial subject to protect the subject's identity and used in lieu of the subject's name when the investigator reports adverse events and/or other trial-related data. Jade Hotchkiss 2019-08-07T12:02:46.720255Z Clinic Subject ID HIO:0000331 Educational Attainment SCDO:0000305 Sufficient SCDO to request inclusion into MESH. Update at a later stage if necessary. The respondent's highest level of education at the current time. Jade Hotchkiss 2019-08-07T12:05:36.588548Z Current Educational Attainment HIO:0000332 Employment Status phenX:11301 Sufficient PhenX protocol: Current Employment Status #11301 The respondent's current employment status. Jade Hotchkiss 2019-08-07T12:09:53.948711Z Current Employment Status HIO:0000333 Marital Status phenX:10902 Sufficient Can add sub-classes of "Marital Status" from MESH. PhenX protocol: Current Marital Status #10902 The respondent's current marital status. Jade Hotchkiss 2019-08-07T12:11:26.334676Z Current Marital Status HIO:0000334 NCIT:C17357 Sufficient The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes. Jade Hotchkiss 2019-08-07T12:14:25.770106Z Gender HIO:0000335 MESH:D005783 Sufficient A person's concept of self as being male and masculine or female and feminine, or ambivalent, based in part on physical characteristics, parental responses, and psychological and social pressures. It is the internal experience of gender role. Jade Hotchkiss 2019-08-07T12:15:32.013363Z Gender Identity HIO:0000336 SCDO:0000490 Sufficient SCDO to request inclusion into MESH. Update at a later stage if necessary. PhenX protocol: Health Insurance Coverage #11502 Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview. Jade Hotchkiss 2019-08-07T12:16:33.122414Z Also applicable to a population not just to an individual. Health Insurance Coverage HIO:0000337 SCDO:0000740 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. PhenX protocol: Medication Inventory #140301 A record of the type and dosage of all prescription and over-the-counter medications as well as dietary supplements currently being taken by the individual. Jade Hotchkiss 2019-08-07T12:22:54.012584Z Medication Inventory HIO:0000338 NCIT:C28407 Sufficient System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides. Jade Hotchkiss 2019-08-07T12:25:26.964175Z National Origin HIO:0000339 Career Employment Job Vocation ExO:0000034 Sufficient An individual attribute that is the usual or principal work or business of an individual. Jade Hotchkiss 2019-08-07T12:26:31.88615Z Occupation HIO:0000340 General Medical History Medical History PMH Past Medical History NCIT:C18772 Sufficient Sub-classes in NCIT to be added here? A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. Jade Hotchkiss 2019-08-07T12:32:05.885119Z Personal Medical History HIO:0000341 Racial Group NCIT:C17049 Sufficient An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. Jade Hotchkiss 2019-08-07T12:33:41.769384Z Race HIO:0000342 Study Participant Compensation SCDO:0002243 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. Reimbursement of research participants for costs directly incurred during the research, such as travel costs and reasonable compensation for their inconvenience and time spent. Compensation can be monetary or non-monetary. Jade Hotchkiss 2019-08-07T12:35:14.330866Z Research participants should be reasonably reimbursed for costs directly incurred during the research, such as travel costs, and compensated reasonably for their inconvenience and time spent. Compensation can be monetary or non-monetary. Compensation must not be so large as to induce potential participants to consent to participate in the research against their better judgment ("undue inducement"). A local research ethics committee must approve reimbursement and compensation for research participants. Research Participant Compensation HIO:0000343 Corticoides Corticosteroides Corticosteroids CHEBI:50858 Sufficient A natural or synthetic analogue of the hormones secreted by the adrenal gland. Jade Hotchkiss 2019-08-07T18:41:00.661169Z Corticosteroid HIO:0000344 PEX1 Gene NCBIGene:5189 Sufficient The protein-coding gene PEX1 (peroxisomal biogenesis factor 1) located on the chromosome 7 mapped at 7q21.2. Jade Hotchkiss 2019-08-08T09:29:27.114199Z PEX1 HIO:0000345 PEX6 Gene PXAAA1 NCBIGene:5190 Sufficient The protein-coding gene PEX6 (peroxisomal biogenesis factor 6) located on the chromosome 6 mapped at 6p21.1. Jade Hotchkiss 2019-08-08T09:29:27.11521Z PEX6 HIO:0000346 PAF-2 Peroxin-6 Peroxisomal-type ATPase 1 Peroxisome Assembly Factor 2 Few but definitions not freely available HIO (Jade Hotchkiss) A protein that is a translation product of the human PEX6 gene or a 1:1 ortholog thereof. Jade Hotchkiss 2019-08-08T11:05:28.924491Z Peroxisomal Biogenesis Factor 6 HIO:0000347 Peroxin-1 Peroxisomal Biogenesis Factor 1 Peroxisome Assembly Factor 1 PR:000012553 Sufficient A protein that is a translation product of the human PEX1 gene or a 1:1 ortholog thereof. Jade Hotchkiss 2019-08-08T11:05:28.925534Z Peroxisomal Biogenesis Factor 1 HIO:0000348 GRXCR1-Like Protein Glutaredoxin Domain-Containing Cysteine-Rich Protein 1-Like Protein PR:000031772 Sufficient A protein that is a translation product of the human GRXCR2 gene or a 1:1 ortholog thereof. Jade Hotchkiss 2019-08-10T19:18:06.654765Z Glutaredoxin Domain-Containing Cysteine-Rich Protein 2 HIO:0000349 Negligable (nothing useful/outdated ontology) HIO (Jade Hotchkiss) A homozygous 1-bp duplication (c.714dupT) in the GRXCR2 gene, resulting in a frameshift and premature termination (Gly239TrpfsTer74) of the Glutaredoxin Domain-Containing Cysteine-Rich Protein 2. The mutation is predicted to remove conserved residues, including the last 2 cysteines from the zinc finger motif, and to generate a protein with an abnormal C-terminal extension. Jade Hotchkiss 2019-08-11T17:17:50.619491Z GRXCR2, 1-BP DUP, 714T HIO:0000350 EC:7.2.2.13 Na(+)/K(+) ATPase Alpha(III) Subunit Na(+)/K(+) ATPase Alpha-3 Subunit Sodium Pump Subunit Alpha-3 PR:000004437 Suggest update to description in the Protein Ontology A protein that is a translation product of the human ATP1A3 gene or a 1:1 ortholog thereof. This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Jade Hotchkiss 2019-08-11T17:56:52.980218Z Sodium/Potassium-Transporting ATPase Subunit Alpha-3 HIO:0000351 DRF3 Diaphanous-Related Formin-3 MDia2 NCIT:C131339 Sufficient Protein diaphanous homolog 3 (1193 aa, ~137 kDa) is encoded by the human DIAPH3 gene. This protein plays a role in Rho and Src coupling, cytokinesis and actin polymerization. Jade Hotchkiss 2019-08-11T18:45:58.536158Z Protein Diaphanous Homolog 3 HIO:0000352 Leaky Mutation MESH:D000073658 Sufficient A mutation that causes a decrease in or elimination of a gene product's activity. Jade Hotchkiss 2019-08-11T19:01:26.10758Z Loss of Function Mutation HIO:0000353 Activation Mutation MESH:D000073659 Sufficient A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression. Jade Hotchkiss 2019-08-11T19:01:26.10878Z Gain of Function Mutation HIO:0000354 -172G-A Suggest update to description Suggest update to description in OMIM ontology on BioPortal HIO (Jade Hotchkiss) A heterozygous G-to-A transition at position -172 in the 5-prime untranslated region of the DIAPH3 gene which causes overexpression of the DIAPH3 gene. Jade Hotchkiss 2019-08-11T19:06:36.595141Z DIAPH3, -172G-A HIO:0000355 HP:0009797 Sufficient Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. Jade Hotchkiss 2019-08-11T19:56:09.941474Z Cholesteatoma HIO:0000356 Deafness, Congenital, and Functional Heart Disease JLNS1 Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNQ1 KCNQ1 Jervell and Lange-Nielsen Syndrome Prolonged QT Interval in EKG and Sudden Death Surdo-Cardiac Syndrome MONDO:0024540 Sufficient Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. Jade Hotchkiss 2019-08-12T14:08:21.148855Z Jervell and Lange-Nielsen Syndrome 1 HIO:0000357 JLNS2 Jervell and Lange-Nielsen Syndrome Caused by Mutation in KCNE1 Jervell and Lange-Nielsen Syndrome Type 2 KCNE1 Jervell and Lange-Nielsen Syndrome MONDO:0012871 Sufficient Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. Jade Hotchkiss 2019-08-12T14:08:21.149942Z Jervell and Lange-Nielsen Syndrome 2 HIO:0000358 IKs Producing Slow Voltage-Gated Potassium Channel Subunit Alpha KvLQT1 KQT-Like 1 KvLQT1 Slow Delayed Rectifier Channel Subunit Voltage-Gated Potassium Channel Subunit Kv7.1 NCIT:C75624 Sufficient Potassium voltage-gated channel subfamily KQT member 1 (676 aa, ~75 kDa) is encoded by the human KCNQ1 gene. This protein is involved in cardiac repolarization through modulation of potassium ion transport. Jade Hotchkiss 2019-08-12T18:44:41.476606Z Potassium Voltage-Gated Channel Subfamily KQT Member 1 HIO:0000359 Moderately Severe HI Moderately Severe HL Moderately Severe Hearing Loss None Suggest inclusion into HPO HIO (Jade Hotchkiss) When hearing loss ranges between 56 to 70 dB. Jade Hotchkiss 2019-08-13T12:33:26.86595Z Moderately Severe Hearing Impairment HIO:0000360 Slight HI Slight HL Slight Hearing Loss None Suggest inclusion into HPO HIO (Jade Hotchkiss) When hearing loss ranges between 16 to 25 dB. Jade Hotchkiss 2019-08-13T12:36:17.824393Z Slight Hearing Impairment HIO:0000361 None Request inclusion into NCIT as a sub-class of "Personal Medical History". HIO (Jade Hotchkiss) A record of an individual's history of cancer. Jade Hotchkiss 2019-08-16T12:33:36.450747Z Personal History of Cancer HIO:0000362 None Request inclusion into NCIT as a sub-class of "Personal Attribute". HIO (Jade Hotchkiss) A record of a patient's biological mother's background regarding health and the occurrence of disease events of the mother. Jade Hotchkiss 2019-08-16T12:37:20.934315Z Maternal Medical History HIO:0000363 Bilateral HI Bilateral HL Bilateral Hearing Loss Hearing Loss, Unilateral Unilateral HI Unilateral HL Unilateral Hearing Loss MESH:D046088 Sufficient HIO (Jade Hotchkiss) Partial or complete hearing loss in one ear. Jade Hotchkiss 2019-08-13T13:16:08.017786Z Unilateral Hearing Impairment HIO:0000364 Hearing Loss, Bilateral Suggest update to description Suggest update to "Hearing Loss, Bilateral" in MESH Hearing impairment in both ears. Jade Hotchkiss 2019-08-13T13:16:08.019012Z Bilateral Hearing Impairment HIO:0000365 Symmetrical Bilateral HI Symmetrical Bilateral HL Symmetrical Bilateral Hearing Loss None HIO (Jade Hotchkiss) When the severity and configuration of hearing impairment is approximately the same in both ears. Jade Hotchkiss 2019-08-13T13:34:33.253865Z Symmetrical Bilateral Hearing Impairment HIO:0000366 Asymmetrical Bilateral HI Asymmetrical Bilateral HL Asymmetrical Bilateral Hearing Loss None HIO (Jade Hotchkiss) When each ear has a different severity and configuration of hearing impairment. Jade Hotchkiss 2019-08-13T13:34:33.255122Z Asymmetrical Bilateral Hearing Impairment HIO:0000367 None Request inclusion into NCIT as a sub-class of "Maternal Medical History" (also requested for inclusion). HIO (Jade Hotchkiss) A record of an individual's biological mother's history of Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections. Jade Hotchkiss 2019-08-16T12:43:18.014813Z History of Maternal TORCH Infections HIO:0000368 Hearing Loss, Sudden Sudden HI Sudden HL Sudden Hearing Loss MESH:D003639 Suggest update to description Suggest update to description in MESH Hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. Jade Hotchkiss 2019-08-13T13:59:46.304824Z Sudden Hearing Impairment HIO:0000369 FHL Functional Hearing Loss Hearing Impairment, Functional Hearing Loss, Functional Hearing Loss, Nonorganic NOHL Non-Organic Hearing Loss Nonorganic Hearing Loss Psychogenic Deafness Psychogenic Hearing Loss MESH:D006315 Sufficient Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders. Jade Hotchkiss 2019-08-13T14:54:40.156668Z Functional Hearing Impairment HIO:0000370 CS Cogan's Syndrome Diffuse Interstitual Keratitis ORPHA:1467 Sufficient Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. Jade Hotchkiss 2019-08-13T15:16:14.501377Z Cogan Syndrome HIO:0000371 Phenotypic Modifier SCDO:0000391 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease. Jade Hotchkiss 2019-08-13T20:36:03.754131Z Disease Modifier HIO:0000372 Social Ecology MESH:D012931 Sufficient The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. Jade Hotchkiss 2019-08-13T20:41:30.056883Z Social Environment HIO:0000373 SCDO:0000444 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. A biological disease modifier that is of a genetic nature. Jade Hotchkiss 2019-08-13T20:41:30.05814Z Genetic Disease Modifier HIO:0000374 Gene, Modifier MESH:D060045 Sufficient Genes with alleles that affect the phenotype associated with a nonallelic gene. Jade Hotchkiss 2019-08-13T20:45:32.968516Z Modifier Gene HIO:0000375 OGMS:0000047 Sufficient A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome. Jade Hotchkiss 2019-08-13T20:46:41.538681Z Genetic Disorder HIO:0000376 MESH:D012959 Sufficient Social and economic factors that characterize the individual or group within the social structure. Jade Hotchkiss 2019-08-13T20:49:23.809412Z Socioeconomic Factors HIO:0000377 APAONTO:Socioeconomic_Status Sufficient The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups. Jade Hotchkiss 2019-08-13T20:53:28.554104Z Socioeconomic Status HIO:0000378 MESH:D059647 Sufficient Combined effects of genotypes and environmental factors together to affect phenotypic characteristics. Jade Hotchkiss 2019-08-13T21:03:58.399779Z Gene-Environment Interaction HIO:0000379 NCIT:C16453 Sufficient A set of people with some shared element. The substance of shared element varies widely, from geography to a situation to interest to lives and values. The term is widely used to evoke sense of collectivity. Jade Hotchkiss 2019-08-13T21:07:56.504218Z Community HIO:0000380 SCDO:0000435 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. An environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class. Jade Hotchkiss 2019-08-13T21:10:30.285604Z Environmental Disease Modifier HIO:0000381 Health Behavior APAONTO:Health_Behavior Sufficient Individual lifestyle and behavior which may or may not enhance or maintain good health. Jade Hotchkiss 2019-08-13T21:12:04.798058Z Health Behaviour HIO:0000382 Health Risk Behaviors Risky Health Behavior Risky Health Behaviors MESH:D000073599 Sufficient Pattern of behavior which predisposes certain individuals to increased risk for contracting disease or sustaining personal injury. These behaviors may cluster into a risky lifestyle. Jade Hotchkiss 2019-08-13T21:17:30.356454Z Health Risk Behavior HIO:0000383 SCDO:0000897 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. The part of the human environment that consists of purely physical factors, including the natural environment (such as soil, climate, water supply) and the built environment. Jade Hotchkiss 2019-08-13T21:19:06.935061Z Physical Environment HIO:0000384 ExO:0000048 Sufficient Human-made surroundings that provide the setting for human activity, ranging in scale from personal shelter and buildings to neighborhoods and cite, and can often include their supporting infrastructure, such as water supply or energy networks. Jade Hotchkiss 2019-08-13T21:21:46.595672Z Built Environment HIO:0000385 Geographic Region GAZ:00000448 Sufficient A reference to a place on the Earth, by its name or by its geographical location. Jade Hotchkiss 2019-08-13T21:21:46.59682Z Geographic Location HIO:0000386 Rural Rural Area Rural Setting SCDO:0001017 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. An open swath of land that has few homes or other buildings, and not very many people. Jade Hotchkiss 2019-08-13T21:24:09.711094Z Rural Location HIO:0000387 Urban Urban Area Urban Environment Urban Setting SCDO:0001204 Sufficient SCDO to request inclusion into relevant ontology. Update at a later stage if necessary. The region surrounding a city. Most inhabitants of urban areas have nonagricultural jobs. Urban areas are very developed, meaning there is a density of human structures such as houses, commercial buildings, roads, bridges, and railways. Jade Hotchkiss 2019-08-13T21:24:09.712335Z Urban Location HIO:0000388 Not relevant to context of HLO HIO (Jade Hotchkiss) A factor that changes another factor or entity in some way. Jade Hotchkiss 2019-08-13T21:29:18.995664Z Modifier HIO:0000389 None Use dc:source to include: Dose, Duration of therapy, Concurrent renal failure, Infusion rate, Lifetime dose, Coadministration with other drugs having ototoxic potential, Genetic susceptibility HIO (Jade Hotchkiss) A factor that modifies one or more potential causes of a disease. Jade Hotchkiss 2019-08-13T21:35:31.596294Z Disease Cause Modifier HIO:0000390 Onset in First Year of Life Onset in Infancy HP:0003593 Sufficient Onset of signs or symptoms of disease between 28 days to one year of life. Jade Hotchkiss 2019-08-14T10:25:49.539625Z Infantile Onset HIO:0000391 Suggest update to description Suggest update to description in MONDO HIO (Jade Hotchkiss) Onset of disease before the acquisition of speech and language, usually before the age of 6. Jade Hotchkiss 2019-08-14T10:25:49.540814Z Prelingual Onset HIO:0000392 Onset in First Weeks of Life Onset in Neonatal Period HP:0003623 Sufficient Onset of signs or symptoms of disease within the first 28 days of life. Jade Hotchkiss 2019-08-14T10:31:11.753342Z Neonatal Onset HIO:0000393 Signs and Symptoms Begin Before 15 Years of Age HP:0003621 Sufficient Onset of signs or symptoms of disease between the age of 5 and 15 years. Jade Hothckiss 2019-08-14T10:50:46.763719Z Juvenile Onset HIO:0000394 NCIT:C85869 Sufficient Of or relating to a medical condition or characteristic that is not present at birth but develops subsequently. Jade Hotchkiss 2019-08-14T11:07:15.36997Z Acquired HIO:0000395 NCIT:C27992 Sufficient An adjectival term used to specify and describe a disease appearance or processes. Jade Hotchkiss 2019-08-14T11:03:12.630198Z Disease Qualifier HIO:0000396 Connatal Inborn MONDO:0021140 Sufficient A characteristic of a disease in which the disease is present at birth, regardless of cause. Jade Hotchkiss 2019-08-14T11:03:45.265732Z Congenital HIO:0000397 History of TB Suggest update to description Suggest update to description in ICD10CM (currenlty no description) HIO (Jade Hotchkiss) A record of an individual's history of Tuberculosis. Jade Hotchkiss 2019-08-16T12:50:04.976082Z Personal History of Tuberculosis HIO:0000398 Few but definitions not available Suggest NCIT updates their definition for "Caregiver" to the other alternative definition and includes "Primary Caregiver" as a sub-class of "Caregiver", using the definition currenlty provided for "Caregiver" instead for "Primary Caregiver", as we have done here. The primary person in charge of the care of a patient, usually a family member or a designated health care professional. Jade Hotchkiss 2019-08-19T12:33:51.299499Z Primary Caregiver HIO:0000399 NCIT:C156420 Sufficient The age of an individual at the time of initial pathologic diagnosis. Jade Hotchkiss 2019-08-19T12:37:28.125142Z Age at Diagnosis HIO:0000400 Genetic Predisposition OGSF:0000000 Sufficient A disposition that is physically based on some genetic material, such as one or more gene mutations or variant, such that if the genome of an organism has the genetic material as its part, the organism may have an increased likelihood or chance to develop: 1) a particular disease; 2) a peculiar biological/bodily process. Jade Hotchkiss 2019-08-20T09:46:15.363226Z Genetic Susceptibility HIO:0000401 Time Course of Drug Use CSP:5000-0012 Suggest update to description Suggest CRISP removes "coordinate indexing with therapy or disease." from description. Period of time a disease or treatment regimen occurs; includes therapies, education, interventions, prevention programs. Jade Hotchkiss 2019-08-20T11:08:54.110281Z Duration of Therapy HIO:0000446 NCIT:C62200 Sufficient A small scale mutation caused by the substitution of a single nucleotide for another nucleotide. Jade Hotchkiss 2019-08-29T20:57:03.81501Z Point Mutation HIO:0000447 Deletion Abnormality NCIT:C19296 Sufficient Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions. Jade Hotchkiss 2019-08-29T20:57:03.816649Z Deletion Mutation HIO:0000448 Insertion-Deletion Mutation MeSH:D054643 Sufficient A mutation named with the blend of insertion and deletion. It refers to a length difference between two alleles where it is unknowable if the difference was originally caused by a sequence insertion or by a sequence deletion. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a frameshift mutation. Jade Hotchkiss 2019-08-29T20:57:03.81824Z Indel Mutation HIO:0000449 Gene Insertion Insertion Mutation MESH:D016254 Sufficient Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt genetic translation of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation. Jade Hotchkiss 2019-08-29T20:57:03.819768Z Insertion HIO:0000450 Sufficient A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein. Jade Hotchkiss 2019-08-29T20:57:51.889183Z Missense Mutation HIO:0000451 Premature Termination Abnormality Premature Termination Mutation NCIT:C62198 Sufficient A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. Jade Hotchkiss 2019-08-29T20:57:51.890709Z Nonsense Mutation HIO:0000452 Exon Synonymous Mutation Exonic Synonymous Mutation Synonymous Mutation NCIT:C20629 Sufficient A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected. Jade Hotchkiss 2019-08-29T20:57:51.891872Z Silent Mutation HIO:0000453 NCIT:C17004 Sufficient The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site to large nucleotide sequences visible at a chromosomal level. Jade Hotchkiss 2019-08-29T21:13:46.258595Z Genetic Polymorphism HIO:0000454 Recombination Recombination, Genetic MESH:D011995 Sufficient Production of new arrangements of DNA by various mechanisms such as assortment and segregation, crossing over; gene conversion; genetic transformation; genetic conjugation; genetic transduction; or mixed infection of viruses. Jade Hotchkiss 2019-08-29T21:14:37.964076Z Genetic Recombination HIO:0000455 MESH:D000071184 Sufficient Naturally occurring genetic variations associated with drug response. While these variants are not markers for genetic predisposition to disease, they influence pharmacokinetics and pharmacodynamics and often occur on genes encoding drug metabolism enzymes and transporters (e.g., angiotensin converting enzyme; cytochrome P-450 CYP2D6). Jade Hotchkiss 2019-08-29T21:15:44.992069Z Pharmacogenomic Variants HIO:0000456 Jade Hotchkiss 2019-08-29T21:15:44.993678Z Single Nucleotide Polymorphism HIO:0000457 Homologous Recombinations Sufficient An exchange of DNA between matching or similar sequences. Jade Hotchkiss 2019-08-29T21:19:01.40354Z Homologous Recombination HIO:0000458 Crossing Over, Genetic MESH:D003434 Sufficient The reciprocal exchange of segments at corresponding positions along pairs of homologous chromosomes by symmetrical breakage and crosswise rejoining forming cross-over sites (Holliday junctions) that are resolved during chromosome segregation. Crossing-over typically occurs during meiosis but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes. Jade Hotchkiss 2019-08-29T21:20:11.774261Z Genetic Crossing Over HIO:0000459 MESH:D005815 Sufficient The meaning ascribed to the base sequence with respect to how it is translated into amino acid sequence. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons. Jade Hotchkiss 2019-08-29T21:26:41.455347Z Genetic Code HIO:0000460 MESH:D000926 Sufficient The sequential set of three nucleotides in transfer RNA that interacts with its complement in messenger RNA, the Codon, during translation in the ribosome. Jade Hotchkiss 2019-08-29T21:28:01.774846Z Anticodon HIO:0000461 MESH:D003062 Sufficient Also known as sense codon, a set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (terminator codon). Most codons are universal, but some organisms do not produce the transfer RNAs complementary to all codons. These codons are referred to as unassigned codons (nonsense codons). Jade Hotchkiss 2019-08-29T21:28:01.775789Z Codon HIO:0000462 Codon, Initiation Codon, Initiator Initiation Codon Initiation Codons Initiator Codons Start Codon Start Codons MESH:D018387 Sufficient A codon that directs initiation of protein translation (Translation, Genetic) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon. Jade Hotchkiss 2019-08-29T21:30:00.005587Z Initiator Codon HIO:0000463 MESH:D018389 Sufficient An amino acid-specifying codon that has been converted to a stop codon by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. Jade Hotchkiss 2019-08-29T21:30:00.006643Z Nonsense Codon HIO:0000464 HI by Cause HL by Cause Hearing Loss by Cause None HIO (Jade Hotchkiss) The classification of hearing impairments according to the agent, event, condition or characteristic which play an essential role in producing the hearing impairments. Jade Hotchkiss 2019-09-02T09:21:12.841508Z Hearing Impairment by Cause HIO:0000465 Hearing Loss of Genetic Origin None HIO (Jade Hotchkiss) A hearing impairment in which a disease causing genetic factor plays an essential role in producing the hearing impairment. Jade Hotchkiss 2019-09-02T09:23:38.61916Z Hearing Impairment of Genetic Origin HIO:0000466 Hearing Loss of Environmental Aetiology None HIO (Jade Hotchkiss) A hearing impairment in which an environmental disease cause plays an essential role in producing the hearing impairment. Jade Hotchkiss 2019-09-02T09:25:39.53984Z Hearing Impairment of Environmental Aetiology HIO:0000467 Hearing Impairment of Unknown Cause Hearing Loss of Unknown Cause Hearing Loss of Unknown Etiology None HIO (Jade Hotchkiss) A hearing impairment for which the cause(s) (agents, events, conditions or characteristics that play an essential role in producing the hearing impairment) is/are unknown. Jade Hotchkiss 2019-09-02T10:26:28.139829Z Hearing Impairment of Unknown Etiology HIO:0000468 EFO:0000589 Sufficient Generic term for diseases caused by an abnormal metabolic process. Jade Hotchkiss 2019-09-02T10:33:12.638375Z Metabolic Disease HIO:0000469 NCIT:C26323 Sufficient A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. Jade Hothckiss 2019-09-02T11:05:27.054751Z Hematologic and Lymphocytic Disorder HIO:0000470 Disorder of Urinary System Renal Disease Urinary Tract Disease EFO:0009690 Sufficient A disease involving the renal system. Jade Hotchkiss 2019-09-02T12:17:22.623521Z Urinary System Disease HIO:0000471 Disease or Disorder of Auditory System EFO:1001455 Sufficient Pathological processes of the ear, the hearing, and the equilibrium system of the body. Jade Hotchkiss 2019-09-02T12:22:57.205261Z Auditory System Disease or Disorder HIO:0000472 HI by Onset HL by Onset Hearing Loss by Onset None HIO (Jade Hotchkiss) Hearing loss according to when it first occurs. Jade Hotchkiss 2019-09-03T16:15:09.845773Z Hearing Impairment by Onset HIO:0000473 Acquired HI Acquired HL Acquired Hearing Loss None HIO (Jade Hotchkiss) Hearing loss that occurs any time after birth. Jade Hotchkiss 2019-09-03T16:57:59.324538Z Acquired Hearing Impairment HIO:0000474 Congenital HI Congenital HL Congenital Hearing Loss None HIO (Jade Hotchkiss) Hearing loss that is present at birth. Jade Hotchkiss 2019-09-03T16:57:59.325573Z Congenital Hearing Impairment HIO:0000475 Postlingual Deafness Postlingual Hearing Loss None HIO (Jade Hotchkiss) Hearing impairment which develops after the acquisition of speech and language, usually after the age of six. Jade Hotchkiss 2019-09-03T17:01:14.593854Z Post-lingual hearing impairments are far more common than prelingual deafness Postlingual Hearing Impairment HIO:0000476 Prelingual Deafness Prelingual Hearing Loss None Hearing impairment which is either congenital or develops before the acquisition of speech and language, usually before the age of 6. Jade Hotchkiss 2019-09-03T17:01:14.594964Z Prelingual Hearing Impairment HIO:0000477 Adult Onset Deafness Adult Onset Hearing Loss None HIO (Jade Hotchkiss) Hearing impairment that begins manifesting during adulthood (at the age of 16 years or later). Jade Hotchkiss 2019-09-03T17:08:03.165385Z Adult Onset Hearing Impairment HIO:0000478 Paediatric Onset Deafness Paediatric Onset Hearing Impairment Paediatric Onset Hearing Loss None HIO (Jade Hotchkiss) Hearing impairment that begins manifesting before adulthood (before the age of 16 years, but excluding neonatal or congenital onset). Jade Hotchkiss 2019-09-03T17:08:03.166355Z Pediatric Onset Hearing Impairment HIO:0000479 Childhood Onset Deafness Childhood Onset Hearing Loss Hearing Impairment with Onset in Childhood None HIO (Jade Hotchkiss) Hearing impairment that begins manifesting at the age of between 1 and 5 years (not including the fifth birthday). Jade Hotchkiss 2019-09-03T17:08:03.16738Z Childhood Onset Hearing Impairment HIO:0000480 Hearing Impairment with Onset in Infancy Infantile Onset Deafness Infantile Onset Hearing Loss None HIO (Jade Hotchkiss) Hearing impairment that begins manifesting between 28 days to one year of life. Jade Hotchkiss 2019-09-03T17:08:03.168358Z Infantile Onset Hearing Impairment HIO:0000481 Sensorineural Deafness, Late-Onset HP:0008615 Suggest update to description Suggest update to description in HPO Sensorineural hearing impairment that begins manifesting during adulthood (at the age of 16 years or later). Jade Hotchkiss 2019-09-03T17:12:14.921893Z Adult Onset Sensorineural Hearing Impairment HIO:0000482 Neonatal Onset Hearing Loss None HIO (Jade Hotchkiss) Hearing impairment that begins manifesting within the first 28 days of life. Jade Hotchkiss 2019-09-03T17:57:00.494767Z Neonatal Onset Hearing Impairment HIO:0000483 Standing Balance HIO:0000484 Postural Sway HIO:0000485 Audiometer HIO:0000486 Two-Channel Audiometer HIO:0000487 Accelerometer HIO:0000488 Auditory Brainstem Response HIO:0000489 Configuration of Hearing Loss HIO:0000490 Air Conduction Testing HIO:0000491 Balance and Cerebellar Test HIO:0000492 cogat:CAO_01322 Sufficient Link to Accelerometer The Standing Balance Test is a measure developed to assess static standing balance. It involves the participant assuming and maintaining up to five poses for 50 seconds each. The sequence of poses is: eyes open on a solid surface, eyes closed on a solid surface, eyes open on a 18 foam surface, eyes closed on a foam surface, eyes open in tandem stance on a solid surface. Detailed stopping rules are in place to ensure participant safety with these progressively demanding poses. Postural sway is recorded for each pose using an accelerometer that the participant wears at waist level. NIH Toolbox Standing Balance Test HIO:0000493 Stenger Test HIO:0000494 Test for Endolymphatic Hydrops HIO:0000495 Head and Neck Examination HIO:0000496 Cranial Nerve Test HIO:0000497 Interaural Time Difference HIO:0000498 Interaural Intensity Difference HIO:0000499 Change Since Last Hearing Test HIO:0000500 OAEs Otoacoustic Emissions HIO:0000501 OAE Recording OAE Test Sufficient Otoacoustic emissions test is a hearing assay with the objective to detect, record and measure the otoacoustic emissions (OAEs), the sound waves that are produced by the motion of the outer cochlea hair cells responding to the auditory stimulation (as a by-product of a cochlear mechanism known as 'cochlear amplification') and that are transmitted backwards through the middle ear and received by the tympanum (ear drum). Definition source: http://asha.org./public/hearing/Otoacoustic-Emissions Even though the intensity of the observed OAE response is a primary factor of in OAE detectability, it is the presence of a detectable OAE response to a particular stimulus that is clinically important and not its strength. [Source: Kemp, D. F. (2002) Otoacoustic emissions, their origin in cochlear function, and use. British Medical Bulletin 2002;63: pp 223-241.] Definition source: Kemp, D. F. (2002) Otoacoustic emissions, their origin in cochlear function, and use. British Medical Bulletin 2002;63: pp 223-241 Otoacoustic emissions (OAEs) are recorded via an ear canal probe (containing both the miniature sound source and the microphone transducer) which is inserted deeply into the ear canal) after an auditory stimulus presentation. Unlike other audiometric tests,in the case of OAE recording, it is not necessary for the stimulus to be near to threshold levels to detect departures from normal function. Middle ear status (middle ear fluid or blockage) affects the OAEs and can prevent their detection. OAE signals are very sensitive to minos conductive losses caused by middle ear fluid and ear canal debris in neonates, so that sometimes, in first few hours after birth, an auditory brain-stem response (ARB) can be recorded and OAE cannot. Otoacoustic Emissions Test HIO:0000502 Auditory Brainstem Response Test HIO:0000503 Whisper Test HIO:0000504 H3Africa 2019-10-30T10:39:17.904519Z Acoustic Immittance HIO:0000505 Acoustic Immittance Testing HIO:0000506 Impedance Testing MMO:0000624 Sufficient A method used to test the condition of the middle ear, including mobility of the tympanic membrane (eardrum) and condition of conduction bones. During the test, a tympanometer is inserted into the ear canal and the instrument causes a series of changes in the pressure in the ear, generates a tone and measures the response of the eardrum at the different pressures. Tympanometry HIO:0000507 Acoustic Reflex Threshold Testing HIO:0000508 Audiologic Function Test HIO:0000509 Bekesy Audiometry Pure-Tone Audiometry MESH:D001301 Sufficient Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli. Audiometry, Pure-Tone HIO:0000510 Acoustic Reflex Threshold HIO:0000511 Acoustic Reflex Decay Testing HIO:0000512 Acoustic Reflex Decay HIO:0000513 Tympanometer HIO:0000514 Hearing Impairment due to Prematurity Hearing Loss based on Immaturity Hearing Loss due to Prematurity None HIO (Jade Hotchkiss) Hearing impairment that occurs due to premature birth (birth at or before 37 weeks of gestational age). Hearing Impairment based on Immaturity Work History Work Record APAONTO:Employment_History Sufficient Past record of an individual's working life, including periods of unemployment. Employment History Inner Ear Dysplasia MP:0000026 Sufficient Any structural anomaly of any components of the labyrinth, including the semicircular canals, vestibule and cochlea. Abnormal Inner Ear Morphology NCIT:C92448 Sufficient A graphic record of the softest sounds that a person can hear at various frequencies, used to measure hearing loss. Audiogram MP:0006335 Sufficient Anomaly in auditory function as it relates to electrical phenomena. Abnormal Hearing Electrophysiology None HIO (Samuel Mawuli Adadey) Educating young people and population in general on hearing loss, its causes, prevention and identification. Educating About Causes of Hearing Loss Absent Auditory Canals Absent Ear Canal Atresia of the External Auditory Canal Atresia of the External Auditory Canals Atretic Auditory Canal Atretic Auditory Canals Atretic External Auditory Cana Atretic External Auditory Canals Auditory Canal Atresia External Acoustic Meatus Atresia External Auditory Meatal Atresia External Auditory Meatus Atresia HP:0000413 Sufficient Absence or failure to form of the external auditory canal. External Auditory Canal Atresia MP:0003878 Sufficient Any functional anomaly of the ear, not due to an anatomical defect. Abnormal Ear Physiology None HIO (Jade Hotchkiss) A record of an individual's history of otological treatment. Personal History of Otological Treatment Epidemic Parotitides Epidemic Parotitis MESH:D009107 Sufficient An acute infectious disease caused by RUBULAVIRUS, spread by direct contact, airborne droplet nuclei, fomites contaminated by infectious saliva, and perhaps urine, and usually seen in children under the age of 15, although adults may also be affected. Mumps Ambient Noise None HIO (Jade Hotchkiss) Any sound other than the sound being monitored (primary sound). Background Noise SYMP:0000399 Sufficient Vertigo is a dizziness characterized by a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is stationary with respect to the surroundings. Vertigo VFT Vestibular Function Tests A test used to determine if the brain or balance portion of the inner ear are causing dizziness. MESH:D014724 Sufficient A test used to determine if the brain or balance portion of the inner ear are causing dizziness. Vestibular Function Test Few but definitions not available HIO (Jade Hotchkiss) An examination that allows determination of the mobility of a patient's tympanic membrane (TM) in response to pressure changes. Pneumatic Otoscopy Inflammation of Meninx Meninx Inflammation Few but definitions not specific enough HIO (Noluthando Manyisa) Meningitis is the infection of the meninges that surround the brain and spinal cord. The infection may be due to bacterial, viral, fungal or parasitic infections or due to non-infectious causes. Symptoms include, but are not limited to, high fever( 38°C or above), severe headache, general malaise and/or confusion, photosensitivity, stiff neck, drowsiness and/or unresponsiveness, and/or seizures. Meningitis MESH:D006320 Sufficient Part of an ear examination that measures the ability of sound to reach the brain. Hearing Test Abnormal Auditory Perception Abnormal Auditory Physiology Auditory Abnormalities MP:0001963 Sufficient Any functional anomaly in the ability to perceive auditory stimuli. Abnormal Hearing Physiology Examination of the ear canal and eardrum with an otoscope. MESH:D038781 Sufficient Examination of the ear canal and eardrum with an otoscope. Otoscopy None HIO (Jade Hotchkiss) A test made available via a mobile app that can be used to self-screen for moderate hearing loss. App-Based Hearing Test Audiometer Test Audiometric Test MESH:D001299 Sufficient The testing of the acuity of the sense of hearing to determine the thresholds of the lowest intensity levels at which an individual can hear a set of tones. The frequencies between 125 and 8000 Hz are used to test air conduction thresholds and the frequencies between 250 and 4000 Hz are used to test bone conduction thresholds. Audiometry Abnormal ABRs Abnormal BAEP(s) Abnormal Brainstem Auditory Brainstem Response(s) Abnormal Brainstem Auditory Evoked Potential Abnormal Brainstem Evoked Responses MP:0004738 Sufficient Anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold Abnormal Auditory Brainstem Response Sensitization, Immunologic MESH:D007114 Sufficient Deliberate stimulation of the host's immune response. Active immunization involves administration of antigens or immunologic adjuvants. Passive immunization involves administration of immune sera or lymphocytes or their extracts (e.g., transfer factor, immune RNA) or transplantation of immunocompetent cell producing tissue (thymus or bone marrow). Immunization Impaired Vestibular Function Vestibular Dysfunction Vestibular Function Defect MP:0004742 Sufficient Any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may result in impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head. Abnormal Vestibular System Physiology MP:0004897 Sufficient Formation of spongy bone in the bony labyrinth of the ear, especially adjacent to the footplate of the stapes; it may cause bony ankylosis of the stapes, resulting in conductive hearing loss; cochlear otosclerosis results in sensorineural hearing loss. Otosclerosis MP:0003741 Sufficient Persistent sensation of buzzing, ringing, clicking, or other noises in the ear. Tinnitus NCIT:C75445 Sufficient A pattern or manner of running, walking, or moving on foot. Gait Barany's Test Baranys Test Caloric Tests MESH:D002150 Sufficient Elicitation of a rotatory nystagmus by stimulating the semicircular canals with water or air which is above or below body temperature. In warm caloric stimulation a rotatory nystagmus is developed toward the side of the stimulated ear; in cold, away from the stimulated side. Absence of nystagmus indicates the labyrinth is not functioning. Caloric Test Bone Conduction Assessment Bone Conduction Hearing Test NCIT:C60916 Sufficient A test of the transmission of sound to the inner ear through the bones of the skull. This testing can measure functionality of the inner ear independent of the functionality of the outer and middle ears. Bone Conduction Testing Bone Conduction Vibrator Bone Conductor Few but definitions not freely available HIO (Jade Hotchkiss) A small vibrator connected to a hearing aid that produces vibrations that are transmitted through the skull to the inner ear, where they are perceived as sound. Bone Vibrator Auriscope MESH:D019720 Sufficient Instruments designed to inspect or auscultate the ear. They are designed primarily to examine the outer ear canal and tympanic membrane by means of light and air under moderate pressure, as with a pneumatic otoscope. Otoscope Abnormal Labyrinthus Osseus Abnormal Osseous Labyrinth MP:0004289 Sufficient Any structural anomaly in the series of cavities (cochlea, vestibule, and semicircular canals) contained within the otic capsule of the petrous portion of the temporal bone; the bony labyrinth is filled with perilymph, in which the delicate, endolymph-filled membranous labyrinth is suspended. Abnormal Bony Labyrinth CMV Infection Cytomegaloviral Infection HCMV Infection HIO (Noluthando Manyisa) Few but definitions not specific enough A viral infection caused by the cytomegalovirus. Infection rarely causes symptoms in healthy people, but symptoms may be similar to glandular fever; however, infection in pregnant or immunocompromised individuals is a cause for concern. CMV infection may result in serious congenital defects in children infected prior to birth or serious symptoms affecting the eyes, lungs, liver, oesophogus, stomach, and intestines in immunicompromised individuals. Cytomegalovirus Infection None HIO (Jade Hotchkiss) A record of an individual's history of ear surgery. Personal History of Ear Surgery STY:T056 Sufficient An activity carried out for recreation or exercise, or as part of daily life. Daily or Recreational Activity owl:Thing None Suggest inclusion into RO HIO (Jade Hotchkiss) A relationship between a condition and a gene where the gene contains one or more genetic variations that contribute to the condition. Jade Hotchkiss 2019-08-20T20:01:55.910162Z gene carrying contributing genetic variation Suggest update of description Suggest update of description in RO. HIO (Jade Hotchkiss) A relationship between a gene and a gene product where the gene participates in some gene expression process (GO:0010467) where the output of that process is the gene product. Jade Hotchkiss 2019-08-20T20:01:55.911337Z has gene product None HIO (Jade Hotchkiss) A relationship between a gene and a genetic variation, where the gene carries the genetic variation. Jade Hotchkiss 2019-08-20T20:01:55.912507Z has genetic variation SCDO:1000199 Sufficient A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise). Jade Hotchkiss 2019-08-20T20:01:55.923583Z induced by SCDO:0001364 Sufficient A relation between a particular genotype or disorder and the pattern in which the particular genotype or disorder is passed from one generation to the next. Jade Hotchkiss 2019-08-20T20:01:55.927171Z has mode of inheritance SCDO:0000664 Sufficient A relation between a condition (phenotype or disease) and a type of treatment or a specific treatment, where the condition can be treated with the treatment. Jade Hotchkiss 2019-08-20T20:01:55.934158Z treated with None Suggest inclusion of this property in the SCDO and suggest they use (as we have done) their initial description of "caused or contributed to by" HIO (Jade Hotchkiss) A relationship between a condition (a phenotype or disease) and an entity (a genotype or genetic variation or other cause) where the entity has a causal role for the condition. Jade Hotchkiss 2019-08-23T14:08:55.305299Z condition caused or contributed to by None Suggest inclusion into RO HIO (Jade Hotchkiss) A relation between a condition and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition. Jade Hotchkiss 2019-08-23T19:54:48.330725Z condition has causal or contributing genetic variation