false definition imported from consider has_alternative_id has_broad_synonym database_cross_reference has_exact_synonym has_narrow_synonym has_obo_namespace has_related_synonym in_subset DIAB_000017 Stages that occur during the progression of Type 2 Diabetes. DIAB_000008 type II diabetes stage DIAB_000008 Temporarily impaired glucose tolerance but not permanent increased blood glucose levels. Determined ratio of IFG(Impaired Fasted Glucose) and IGT(Impaired Glucose Tolerance). DIAB_000009 prediabetes(IFG/IGT) DIAB_000009 Permanent increased blood glucose levels. DIAB_000010 manifest diabetes DIAB_000010 A stage where long-term elevated blood glucose levels causing phenotypic changes in additional organ systems. DIAB_000011 consequences/complications DIAB_000011 DIAB_000012 hyperosmolarity DIAB_000012 DIAB_000013 macular edema DIAB_000013 A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. MSH:D004194 NCI:C2991 NCI:TCGA SNOMEDCT_US_2015_03_01:64572001 UMLS_CUI:C0012634 disease_ontology DOID:4 disease DOID:4 A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. url:http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. ICD10CM:E08-E13 ICD10CM:E11 ICD9CM:250 MSH:D003920 NCI:C2985 NCI:OMFAQ NCI:TCGA SNOMEDCT_US_2015_03_01:154671004 SNOMEDCT_US_2015_03_01:191044006 SNOMEDCT_US_2015_03_01:267467004 SNOMEDCT_US_2015_03_01:73211009 UMLS_CUI:C0011849 disease_ontology DOID:9351 diabetes mellitus DOID:9351 A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. PMID:9686693 url:http://www.who.int/diabetes/action_online/basics/en/ url:https://en.wikipedia.org/wiki/Diabetes_mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. EFO:0001360 ICD10CM:E11 KEGG:04930 MSH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 SNOMEDCT_US_2015_03_01:154672006 SNOMEDCT_US_2015_03_01:190323008 SNOMEDCT_US_2015_03_01:190384004 SNOMEDCT_US_2015_03_01:267468009 SNOMEDCT_US_2015_03_01:44054006 UMLS_CUI:C0011860 NIDDM non-insulin-dependent diabetes mellitus type II diabetes mellitus disease_ontology DOID:9352 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 2 diabetes mellitus DOID:9352 A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. EFO:0001359 ICD10CM:E10 KEGG:04940 MSH:D003922 NCI:C2986 OMIM:125852 OMIM:222100 OMIM:300136 OMIM:600318 OMIM:600319 OMIM:600320 OMIM:600321 OMIM:600883 OMIM:601208 OMIM:601318 OMIM:601388 OMIM:601666 OMIM:601941 OMIM:601942 OMIM:603266 OMIM:605598 OMIM:610155 OMIM:612520 OMIM:612521 OMIM:612522 OMIM:612622 OMIM:613006 SNOMEDCT_US_2015_03_01:154673001 SNOMEDCT_US_2015_03_01:190322003 SNOMEDCT_US_2015_03_01:190362004 SNOMEDCT_US_2015_03_01:267469001 SNOMEDCT_US_2015_03_01:46635009 UMLS_CUI:C0011854 IDDM insulin-dependent diabetes mellitus type I diabetes mellitus disease_ontology DOID:9744 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 1 diabetes mellitus DOID:9744 Repeated infections of the urinary tract. obo HP:0000094 UMLS:C0042029 UMLS:C0262655 Frequent urinary tract infections Urinary infection Urinary tract infection Urinary tract infections Urinary tract infections, recurrent human_phenotype HP:0000010 Recurrent urinary tract infections HP:0000010 Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. obo MeSH:D053158 UMLS:C0028734 Nycturia human_phenotype HP:0000017 Often occuring as a result of heart insufficiency. Nocturia HP:0000017 Loss of the ability to control the `urinary bladder` (FMA:15900) leading to involuntary `urination` (GO:0060073). obo HP:0006942 HP:0008681 MeSH:D014549 Bladder incontinence human_phenotype HP:0000020 Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. Urinary incontinence HP:0000020 An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203). obo HP:0000087 HP:0005566 HP:0008646 UMLS:C1848822 Decreased renal function Impaired renal function Loss of renal function Reduced renal function Renal dysfunction Renal functional abnormality human_phenotype HP:0000082 Abnormality of renal physiology HP:0000082 A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. HP:0000084 HP:0004723 MeSH:D051437 UMLS:C1963154 Renal failure Renal failure in adulthood human_phenotype HP:0000083 Renal insufficiency HP:0000083 Increased levels of protein in the urine. obo MeSH:D011507 UMLS:C0033687 human_phenotype HP:0000093 Proteinuria HP:0000093 obo UMLS:C0178664 human_phenotype HP:0000096 Glomerulosclerosis HP:0000096 obo MeSH:D005923 Focal and segmental glomerular sclerosis Focal and segmental glomerulosclerosis human_phenotype HP:0000097 Focal segmental glomerulosclerosis HP:0000097 Inflammation of the renal glomeruli. obo MeSH:D005921 UMLS:C0017658 Glomrulonephritis human_phenotype HP:0000099 Glomerulonephritis HP:0000099 Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. obo HP:0000801 HP:0004718 MeSH:D009404 Nephrosis human_phenotype HP:0000100 In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h. Nephrotic syndrome HP:0000100 An `increased rate` (PATO:0000912) of `micturition` (GO:0060073). obo MP:0001762 MeSH:D011141 UMLS:C0032617 human_phenotype HP:0000103 An excessive volume of urination for an adult is more than 2.5 liters of urine per day. Polyuria HP:0000103 obo HP:0001918 UMLS:C0748318 Progressive renal failure Renal insufficiency, progressive human_phenotype RENAL FAILURE, PROGRESSIVE HP:0000106 Progressive renal insufficiency HP:0000106 A nonspecific term referring to disease or damage of the kidneys. obo UMLS:C0022658 human_phenotype HP:0000112 Nephropathy HP:0000112 obo HP:0008644 HP:0008657 UMLS:C0032460 Polycystic ovary Polycystic ovary disease Sclerocystic ovaries human_phenotype HP:0000147 Polycystic ovaries HP:0000147 A `severe` (PATO:0000396) form of `periodontitis` (HP:0000165). obo human_phenotype HP:0000166 Severe periodontitis HP:0000166 A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605). obo HP:0000404 HP:0001728 HP:0001729 HP:0001754 HP:0008560 HP:0008563 MeSH:D003638 UMLS:C0011053 UMLS:C0262435 UMLS:C2029884 Congenital deafness Congenital hearing loss Deafness Hearing defect human_phenotype Hearing loss HP:0000365 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 HP:0000365 A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431). obo HP:0000374 HP:0001753 HP:0001916 HP:0008538 HP:0008553 HP:0008565 HP:0008576 HP:0008611 HP:0008613 HP:0008614 HEARING LOSS, SENSORINEURAL Sensorineural deafness human_phenotype HP:0000407 Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). Sensorineural hearing impairment HP:0000407 Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. obo UMLS:C1962966 human_phenotype HP:0000488 Retinopathy HP:0000488 Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. obo HP:0000516 HP:0000566 HP:0007860 HP:0007983 UMLS:C0580104 Decreased visual acuity Impaired vision Poor vision Poor visual acuity Reduced visual acuity human_phenotype HP:0000505 Visual impairment HP:0000505 A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881). obo MeSH:D002386 UMLS:C0086543 Cataracts Lens opacities Lens opacity human_phenotype HP:0000518 Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). Cataract HP:0000518 obo HP:0007974 MeSH:D058499 UMLS:C0854723 human_phenotype HP:0000556 Retinal dystrophy HP:0000556 Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that). obo Loss of vision human_phenotype HP:0000572 Visual loss HP:0000572 Blindness is the condition of lacking visual perception due to physiological or neurological factors. obo MeSH:D001766 UMLS:C0376288 UMLS:C0456909 human_phenotype HP:0000618 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. Blindness HP:0000618 Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. obo HP:0006295 HP:0006306 MeSH:D003731 UMLS:C1867882 Caries Dental caries Early dental caries Frequent caries human_phenotype Dental decay HP:0000670 It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. Carious teeth HP:0000670 `Inflammation` (MPATH:212) of the `periodontium` (FMA:56665). obo HP:0000165 HP:0006301 Periodontal disease MeSH:D010518 UMLS:C0031099 human_phenotype HP:0000704 Periodontitis HP:0000704 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. obo HP:0000715 HP:0002368 HP:0002456 UMLS:C1856060 Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Psychiatric disorders Psychiatric disturbances human_phenotype Behavioral symptoms HP:0000708 Behavioural/Psychiatric Abnormality HP:0000708 A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure. obo MeSH:D003863 UMLS:C0344315 human_phenotype Depressive disorder HP:0000716 Depression HP:0000716 Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. obo MeSH:D000374 Aggression Aggressive behaviour Aggressiveness human_phenotype HP:0000718 Aggressive behavior HP:0000718 A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. obo HP:0002274 HP:0007122 HP:0007150 HP:0007283 MeSH:D003704 UMLS:C0497327 Dementia, progressive Progressive dementia human_phenotype HP:0000726 Dementia HP:0000726 A reduction in the speed at which electrical signals propagate along the axon of a `neuron` (FMA:54527). obo HP:0000761 HP:0007118 HP:0007218 HP:0007231 UMLS:C0234090 Abnormal nerve conduction Decreased nerve conduction velocities (NCV) Delayed nerve conduction velocity Nerve conduction abnormalities Reduced nerve conduction velocities Slow nerve conduction velocity Slowed nerve conduction velocities human_phenotype HP:0000762 Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. Decreased nerve conduction velocity HP:0000762 Peripheral neuropathy affecting the sensory nerves. obo HP:0003410 HP:0006815 HP:0007043 HP:0007142 UMLS:C0151313 Peripheral sensory neuropathy human_phenotype HP:0000763 Sensory neuropathy HP:0000763 obo UMLS:C2187990 Erectile dysfunction human_phenotype HP:0000802 Impotence HP:0000802 The presence of `chronic` (PATO:0001863) `increased pressure` (PATO:0001576) in the `systemic arterial system` (FMA:45623). obo HP:0004949 HP:0005126 MeSH:D006973 UMLS:C0020538 Systemic hypertension human_phenotype HP:0000822 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. Hypertension HP:0000822 An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) combined with a `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670). obo UMLS:C1864903 Hyperinsulinaemic hypoglycaemia Hyperinsulinemia hypoglycemia human_phenotype HP:0000825 Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. Hyperinsulinemic hypoglycemia HP:0000825 A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels. obo UMLS:C0743125 Insulin resistant diabetes Insulin resistant diabetes mellitus Insulin-resistant diabetes human_phenotype HP:0000831 Insulin-resistant diabetes mellitus HP:0000831 A type of `hypothyroidism` (HP:0000821) that results from a defect in the `thyroid gland` (FMA:9603). obo UMLS:C0700502 human_phenotype HP:0000832 Primary hypothyroidism HP:0000832 obo MeSH:D018149 UMLS:C0271650 Impaired glucose tolerance human_phenotype HP:0000833 Glucose intolerance HP:0000833 An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) in the `blood` (FMA:9670). obo MP:0002079 MeSH:D006946 UMLS:C0020459 human_phenotype HP:0000842 Hyperinsulinemia HP:0000842 Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. obo HP:0008856 MeSH:D000172 UMLS:C0001206 Acral hypertrophy Acromegalic growth Acromegaly human_phenotype HP:0000845 Disorder resulting from excess pituitary gland production of growth hormone (hGH). Growth hormone excess HP:0000845 `Increased resistance` (PATO:0001650) towards `insulin` (PRO:000009054), that is, diminished effectiveness of insulin in reducing blood glucose levels. obo MeSH:D007333 UMLS:C0021655 human_phenotype HP:0000855 Insulin resistance HP:0000855 The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. obo MeSH:D006966 UMLS:C0020514 Hyperprolactinaemia Hyperprolactinemia human_phenotype HP:0000870 Prolactin excess HP:0000870 Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. obo HP:0002768 HP:0002799 HP:0002800 MeSH:D001851 UMLS:C1968854 Decreased bone mineral density Generalized osteopenia human_phenotype HP:0000938 Osteopenia HP:0000938 Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean. obo HP:0002774 MeSH:D010024 UMLS:C0029456 Generalized osteoporosis human_phenotype HP:0000939 Osteoporosis HP:0000939 A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. obo HP:0007498 HP:0007518 HP:0007591 MeSH:D000052 UMLS:C0000889 UMLS:C0343059 human_phenotype HP:0000956 Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. Acanthosis nigricans HP:0000956 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. obo HP:0000990 MeSH:D004487 UMLS:C0013604 Hydrops Oedema human_phenotype HP:0000969 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. Edema HP:0000969 Inability to sweat. obo UMLS:C0003028 human_phenotype HP:0000970 Anhidrosis HP:0000970 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. obo MeSH:D011537 UMLS:C0033774 human_phenotype HP:0000989 Pruritus HP:0000989 The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. obo MeSH:D014973 UMLS:C0043325 Xanthomata human_phenotype HP:0000991 Xanthomatosis HP:0000991 Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). obo MeSH:D006628 UMLS:C0019572 human_phenotype HP:0001007 Hirsutism HP:0001007 Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. obo UMLS:C0221252 human_phenotype HP:0001013 Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. Eruptive xanthomas HP:0001013 obo UMLS:C1851789 human_phenotype HP:0001058 Poor wound healing HP:0001058 A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). obo HP:0005596 UMLS:C0702166 human_phenotype HP:0001061 Acne HP:0001061 Hard, pebble-like deposits that form within the `gallbladder` (FMA:7202). obo MeSH:D002769 UMLS:C0947622 Gallstones human_phenotype HP:0001081 Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. Cholelithiasis HP:0001081 The presence of `inflammatory` (PATO:0002104) changes in the `gallbladder` (FMA:7202). obo MeSH:D002764 UMLS:C1963083 human_phenotype HP:0001082 Cholecystitis HP:0001082 Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. obo HP:0006908 HP:0007119 UMLS:C0026106 Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation human_phenotype Mental retardation, mild HP:0001256 Intellectual disability, mild HP:0001256 Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. obo ICD-10:R40.2 MeSH:D003128 UMLS:C0009421 human_phenotype HP:0001259 Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. Coma HP:0001259 Loss of previously present mental abilities, generally in adults. obo HP:0002303 HP:0006822 HP:0007155 HP:0007253 HP:0007264 HP:0007298 UMLS:C0234985 Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline human_phenotype HP:0001268 Mental deterioration HP:0001268 A generalized disorder of peripheral nerves. obo HP:0006941 HP:0007287 MeSH:D011115 UMLS:C0152025 human_phenotype HP:0001271 Polyneuropathy HP:0001271 A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. obo HP:0004932 HP:0006700 MeSH:D007024 Postural hypotension human_phenotype HP:0001278 Orthostatic hypotension HP:0001278 The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. obo HP:0006953 UMLS:C0575081 UMLS:C1839568 Abnormal gait Gait abnormalities Gait difficulties Gait disturbances Impaired gait human_phenotype HP:0001288 If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. Gait disturbance HP:0001288 Lack of clarity and coherence of thought, perception, understanding, or action. obo HP:0000731 MeSH:D003221 UMLS:C1963086 Disorientation human_phenotype HP:0001289 Confusion HP:0001289 Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. obo HP:0002452 MeSH:D020521 UMLS:C0038454 UMLS:C1849743 Cerebral vascular events Cerebrovascular accident human_phenotype CEREBROVASCULAR ACCIDENTS HP:0001297 Stroke HP:0001297 Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. obo UMLS:C0242422 human_phenotype Parkinsonian disease HP:0001300 Parkinsonism HP:0001300 A reduction in the freedom of movement of one or more joints. obo HP:0003101 UMLS:C1856088 Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion human_phenotype HP:0001376 Limitation of joint mobility HP:0001376 A chronic disorder of the `liver` (FMA:7197) in which liver tissue becomes `scarred` (PATO:0001850) and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. obo MeSH:D008103 UMLS:C0023890 Hepatic cirrhosis human_phenotype LIVER CIRRHOSIS HP:0001394 Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. Cirrhosis HP:0001394 The presence of `fibrosis` (MPATH:181) of the `liver` (FMA:7197) tissue. obo UMLS:C0239946 human_phenotype HP:0001395 Hepatic fibrosis HP:0001395 Impairment of bile flow due to obstruction in bile ducts. obo MeSH:D002779 UMLS:C0008370 human_phenotype HP:0001396 Cholestasis HP:0001396 The presence of `steatosis` (MPATH:622) in the `liver` (FMA:7197). obo HP:0002252 HP:0200121 MeSH:D005234 UMLS:C0015695 Fatty infiltration of liver Fatty liver Liver steatosis Steatosis human_phenotype HP:0001397 Hepatic steatosis HP:0001397 Reduced ability of the liver to perform its functions. obo HP:0004393 HP:0005228 HP:0006570 UMLS:C0086565 UMLS:C0232744 Liver dysfunction human_phenotype LIVER DYSFUNCTION, MILD HP:0001410 Decreased liver function HP:0001410 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. obo HP:0001429 MeSH:D020412 human_phenotype HP:0001426 Multifactorial inheritance HP:0001426 obo human_phenotype HP:0001472 Familial predisposition HP:0001472 An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. obo HP:0001515 HP:0008862 HP:0008892 HP:0008931 UMLS:C1844889 UMLS:C1855336 UMLS:C1855652 In utero growth retardation Intrauterine growth failure Intrauterine growth restriction Intrauterine growth retardation (IUGR) Intrauterine growth retardation, IUGR Intrauterine retardation Prenatal growth deficiency Prenatal growth failure Prenatal growth retardation Prenatal onset growth retardation Prenatal-onset growth retardation Small for gestational age infant human_phenotype HP:0001511 Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. Intrauterine growth retardation HP:0001511 Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese. obo MP:0001261 MeSH:D009765 UMLS:C1963185 human_phenotype HP:0001513 Obesity HP:0001513 Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. obo HP:0001422 HP:0008849 HP:0008919 HP:0008927 Birth weight less than 10th percentile Low birth weight human_phenotype HP:0001518 Small for gestational age HP:0001518 The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. obo HP:0001825 MeSH:D005320 Birth weight > 90th percentile Birthweight > 90th percentile Fetal macrosomia Macrosomia Macrosomia, neonatal human_phenotype HP:0001520 Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. Large for gestational age HP:0001520 obo UMLS:C0085633 human_phenotype HP:0001575 Mood changes HP:0001575 Overproduction of the hormone of `cortisol` (CHEBI:17650) by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. obo HP:0000850 HP:0004316 UMLS:C0010481 Cushing syndrome Increased cortisol production human_phenotype HP:0001578 Hypercortisolism HP:0001578 The birth of a baby of less than 37 weeks of gestational age. obo MeSH:D047928 UMLS:C2028283 Premature delivery Premature delivery of affected infants Preterm delivery human_phenotype HP:0001622 Premature birth HP:0001622 Any abnormality of the `cardiovascular system` (FMA:7161). obo MeSH:D018376 UMLS:C0243050 Cardiovascular abnormality human_phenotype Cardiovascular disease HP:0001626 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. Abnormality of the cardiovascular system HP:0001626 An abnormality of the `heart` (FMA:7088). obo UMLS:C0018798 Cardiac abnormality Cardiac anomalies human_phenotype HP:0001627 Abnormality of the heart HP:0001627 The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. obo HP:0006686 MeSH:D006333 UMLS:C0018802 Cardiac failure Cardiac insufficiency Heart failure human_phenotype HP:0001635 Congestive heart failure HP:0001635 A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. obo MeSH:D009202 UMLS:C0878544 human_phenotype HP:0001638 Cardiomyopathy HP:0001638 Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. obo MeSH:D002312 UMLS:C0340425 Cardiomyopathy, hypertrophic human_phenotype HP:0001639 Hypertrophic cardiomyopathy HP:0001639 The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). obo HP:0005161 MeSH:D016757 UMLS:C0085298 UMLS:C1968862 Premature sudden cardiac death human_phenotype HP:0001645 Sudden cardiac death HP:0001645 Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. obo Mesh:D009203 UMLS:C0027051 human_phenotype HP:0001658 Myocardial infarction HP:0001658 Reduction of the diamter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. obo HP:0005138 MeSH:D003324 UMLS:C0010068 Coronary disease human_phenotype HP:0001677 Coronary artery disease HP:0001677 Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. obo MeSH:D000787 UMLS:C0002962 human_phenotype HP:0001681 Angina pectoris HP:0001681 obo MeSH:D006323 UMLS:C0018790 human_phenotype HP:0001695 Cardiac arrest HP:0001695 Rapid and unexpected death. obo MeSH:D003645 human_phenotype HP:0001699 Sudden death HP:0001699 An abnormality of the `left ventricle` (FMA:7101) of the heart. obo UMLS:C0344905 Left ventricular abnormality human_phenotype HP:0001711 Abnormality of the left ventricle HP:0001711 `Calcification` (PATO:0001447) affecting the `coronary arteries` (FMA:3800). obo UMLS:C1611184 human_phenotype HP:0001717 Coronary artery calcification HP:0001717 The presence of `inflammation` (MPATH:212) in the `pancreas` (FMA:7198). obo MeSH:D010195 UMLS:C0030305 human_phenotype HP:0001733 Pancreatitis HP:0001733 A `acute` (PATO:0000389) form of `pancreatitis` (HP:0001733). obo HP:0004512 Pancreatitis, acute human_phenotype HP:0001735 Acute pancreatitis HP:0001735 An abnormality of the `skeleton of foot` (FMA:24222). obo HP:0010216 HP:0010611 UMLS:C0016506 Abnormal feet morphology Abnormality of the feet Foot deformities Foot deformity human_phenotype HP:0001760 A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. Abnormality of the foot HP:0001760 Reduction inexisting body weight. obo MeSH:D015431 UMLS:C0043096 human_phenotype HP:0001824 Weight loss HP:0001824 Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). obo MeSH:D058186 UMLS:C0022660 Acute kidney injury human_phenotype HP:0001919 Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. Acute renal failure HP:0001919 The presence of `stenosis` (MPATH:80) of the `renal artery` (FMA:14751). obo UMLS:C0035067 human_phenotype HP:0001920 Renal artery stenosis HP:0001920 An abnormality of the process of `blood coagulation` (GO:0007596). That is, altered ability or inability of the blood to clot. obo UMLS:C1846821 Abnormal blood coagulation studies Coagulation abnormalities Coagulation abnormality Haemorrhagic disorders human_phenotype Blood coagulation disorder HP:0001928 Abnormality of coagulation HP:0001928 Abnormal acid accumulation or depletion of base. obo HP:0001940 MeSH:D000138 UMLS:C0001122 acidemia human_phenotype HP:0001941 Acidosis is a condition in which there is excessive acid in the body fluids. Acidosis HP:0001941 Acid accumulation or depletion of base in the body due to buildup of metabolic acids. obo HP:0004895 HP:0004907 UMLS:C0220981 human_phenotype HP:0001942 Metabolic acidosis HP:0001942 A `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670). obo HP:0003356 MeSH:D007003 UMLS:C0020615 Hypoglycaemia human_phenotype HP:0001943 Hypoglycemia HP:0001943 obo MeSH:D003681 UMLS:C0011175 human_phenotype HP:0001944 Dehydration HP:0001944 Presence of elevated levels of ketone bodies in the body. obo HP:0003543 MeSH:D007662 UMLS:C0022638 UMLS:C0235430 Ketonemia human_phenotype HP:0001946 Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. Ketosis HP:0001946 An `abnormal` (PATO:0000460) `resistance to` (PATO:0001046) `glucose`(CHEBI:17234), i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. obo MP:0005291 UMLS:C0235401 Glucose tolerance decreased human_phenotype HP:0001952 Abnormal glucose tolerance HP:0001952 A type of diabetic metabolic abnormality with an accumulation of ketone bodies. obo HP:0008253 MeSH:D016883 UMLS:C0011880 Diabetic ketosis human_phenotype HP:0001953 Diabetic ketoacidosis HP:0001953 Obesity located preferentially in the trunk of the body as opposed to the extremities. obo HP:0008885 UMLS:C0311277 Centripetal obesity human_phenotype HP:0001956 Truncal obesity HP:0001956 obo MP:0001426 MeSH:D059606 UMLS:C0085602 human_phenotype HP:0001959 Polydipsia HP:0001959 `Recurrent` (PATO:0000427) episodes of `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670). obo UMLS:C1846288 Hypoglycemic episodes Recurrent hypoglycaemia Recurrent hypoglycemic episodes hypoglycaemia, recurrent hypoglycemia, recurrent human_phenotype HP:0001988 Recurrent hypoglycemia HP:0001988 Acidosis resulting from accumulation of ketone bodies. obo UMLS:C0220982 human_phenotype HP:0001993 Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. Ketoacidosis HP:0001993 obo UMLS:C0158986 human_phenotype HP:0001998 Neonatal hypoglycemia HP:0001998 Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. obo MeSH:D014839 UMLS:C0042963 Emesis human_phenotype HP:0002013 Vomiting HP:0002013 Abnormally increased frequency of loose or watery bowel movements. obo MeSH:D003967 UMLS:C1963091 human_phenotype HP:0002014 Diarrhea HP:0002014 A sensation of unease in the stomach together with an urge to vomit. obo MeSH:D009325 UMLS:C1963179 human_phenotype HP:0002018 Nausea HP:0002018 Pain perceived to originate in the abdomen. obo MeSH:D015746 UMLS:C0000737 human_phenotype HP:0002027 Abdominal pain HP:0002027 The presence of chronic `diarrhea` (HP:0002014), which is usually taken to mean diarrhea that has persisted for over 4 weeks. obo UMLS:C0401151 human_phenotype DIARRHEA, RECURRENT RECURRENT DIARRHEA HP:0002028 Chronic diarrhea HP:0002028 A lack or loss of appetite for food (as a medical condition). obo MeSH:D000855 UMLS:C0426579 human_phenotype HP:0002039 Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). Anorexia HP:0002039 Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. obo HP:0002422 HP:0006890 human_phenotype Supratentorial atrophy HP:0002059 Atrophy may be progressive over time. Cerebral atrophy HP:0002059 Inflammation of any part of the lung parenchyma. obo MeSH:D011014 UMLS:C0032285 human_phenotype HP:0002090 Pneumonia HP:0002090 Difficult or labored breathing. obo MeSH:D004417 UMLS:C2024878 human_phenotype HP:0002094 Dyspnea HP:0002094 obo HP:0006534 MeSH:D004646 UMLS:C0034067 Pulmonary emphysema human_phenotype HP:0002097 Emphysema HP:0002097 Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. obo HP:0005936 HP:0005958 MeSH:D001049 UMLS:C1963065 Absence of spontaneous respiration Apneic episodes Apnoea human_phenotype HP:0002104 Apnea HP:0002104 Atrophy of the cortex of the cerebrum. obo HP:0006823 HP:0006835 UMLS:C1861441 Cerebral cortex atrophy Cortical atrophy human_phenotype HP:0002120 Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. Cerebral cortical atrophy HP:0002120 obo UMLS:C0948008 human_phenotype HP:0002140 Ischemic stroke HP:0002140 An abnormally high level of `uric acid` (CHEBI:27226) in the `blood` (FMA:9670). obo MeSH:D033461 UMLS:C0740394 Hyperuricaemia human_phenotype HP:0002149 Hyperuricemia HP:0002149 An abnormal increase in the level of `triglycerides` (CHEBI:17855) in the `blood` (FMA:9670). obo HP:0003082 HP:0008174 HP:0008332 MeSH:D015228 UMLS:C0858041 Increased plasma triglycerides Increased serum triglycerides Increased triglycerides human_phenotype HP:0002155 Hypertriglyceridemia HP:0002155 An increased concentration of `nitrogen compounds` (CHEBI:51143) in the `blood` (FMA:9670). obo MeSH:D053099 UMLS:C0554309 Azotaemia human_phenotype HP:0002157 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. Azotemia HP:0002157 Progressive loss of neural cells and tissue. obo Neuro-degenerative disease human_phenotype Neurodegenerative disease HP:0002180 Neurodegeneration HP:0002180 obo UMLS:C0694563 human_phenotype HP:0002189 Excessive daytime sleepiness HP:0002189 Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197). obo HP:0001393 HP:0001398 MeSH:D006529 UMLS:C0019209 Enlarged liver human_phenotype HP:0002240 Hepatomegaly HP:0002240 Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. obo MeSH:D006429 UMLS:C0018991 human_phenotype HP:0002301 Hemiplegia HP:0002301 Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. obo HP:0000266 HP:0001354 MeSH:D006261 UMLS:C0018681 Headaches human_phenotype HP:0002315 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. Headache HP:0002315 obo MeSH:D002546 UMLS:C0007787 TIA Transient ischemic attacks human_phenotype HP:0002326 Transient ischemic attack HP:0002326 An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. obo HP:0000747 HP:0002081 UMLS:C0002622 UMLS:C0233794 UMLS:C0542476 Forgetfulness Memory loss human_phenotype HP:0002354 Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. Memory impairment HP:0002354 obo UMLS:C0850703 human_phenotype HP:0002359 Frequent falls HP:0002359 An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. obo UMLS:C0851578 Sleep disturbances human_phenotype HP:0002360 Sleep disturbance HP:0002360 obo UMLS:C1857287 Strokelike episodes human_phenotype HP:0002401 Stroke-like episodes HP:0002401 `Dysfunction` (PATO:0001641) of the `autonomic nervous system` (FMA:9905). obo HP:0002387 HP:0007310 UMLS:C0013363 Autonomic dysfunction human_phenotype HP:0002459 Dysautonomia is a general term that refers to any dysfunction of the autonomic nervous system. Dysautonomia HP:0002459 A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. obo HP:0006836 HP:0007116 UMLS:C1856692 Decreased vibration sense Decreased vibratory sense Diminished vibratory sense Impaired vibratory sense human_phenotype HP:0002495 Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. Impaired vibratory sensation HP:0002495 obo HP:0006878 MeSH:D000544 UMLS:C0002395 human_phenotype HP:0002511 Alzheimer disease HP:0002511 obo HP:0002400 UMLS:C1850496 Neuronal loss human_phenotype HP:0002529 This finding can be demonstrated by neuropathology. Neuronal loss in central nervous system HP:0002529 `Decreased strength` (PATO:0001779) of the `Muscle layer of stomach` (FMA:14909), which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. obo MeSH:D018589 UMLS:C0152020 human_phenotype HP:0002578 Gastroparesis HP:0002578 A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. obo HP:0000724 HP:0002042 MP:0001433 MeSH:D006963 UMLS:C0020505 Hyperphagia Voracious appetite human_phenotype Increased appetite HP:0002591 Polyphagia HP:0002591 An abnormality of the `vasculature` (FMA:69050). obo UMLS:C0241657 Vascular abnormalities human_phenotype HP:0002597 Abnormality of the vasculature HP:0002597 The presence of `necrosis` (MPATH:4) affecting the `liver` (FMA:7197). obo peter 2008-02-20T11:32:00Z UMLS:C0151798 human_phenotype HP:0002605 Hepatic necrosis HP:0002605 A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. obo MeSH:D050197 UMLS:C0004153 human_phenotype HP:0002621 Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. Atherosclerosis HP:0002621 Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. obo MeSH:D001161 UMLS:C0003850 human_phenotype HP:0002634 Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. Arteriosclerosis HP:0002634 obo UMLS:C0007786 human_phenotype HP:0002637 Cerebral ischemia HP:0002637 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant `neoplasm` (MPATH:218) (tumour). obo HP:0003008 HP:0006741 MeSH:D009369 UMLS:C0027651 Neoplasia Oncological abnormality Oncology human_phenotype Cancer HP:0002664 Neoplasm HP:0002664 An abnormality of the `immune system` (FMA:9825). obo HP:0003257 HP:0003346 HP:0010986 Immunological abnormality human_phenotype HP:0002715 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. Abnormality of the immune system HP:0002715 Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. obo HP:0002957 HP:0002964 HP:0005405 UMLS:C0239998 Frequent infections Frequent, severe infections Increased frequency of infection Predisposition to infections Susceptibility to infection infections, recurrent human_phenotype HP:0002719 Recurrent infections HP:0002719 The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture). obo HP:0002660 HP:0002767 HP:0002809 UMLS:C1838660 Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures human_phenotype HP:0002757 This term will be made obsolete. The annotations need to be checked. Recurrent fractures HP:0002757 obo HP:0002824 HP:0005762 MeSH:D010003 UMLS:C0029408 human_phenotype HP:0002758 Osteoarthritis HP:0002758 An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). obo HP:0001740 HP:0002784 UMLS:C0581381 Frequent upper respiratory infections Frequent upper respiratory tract infections Recurrent upper respiratory and lower respiratory infections Recurrent upper respiratory infection Recurrent upper respiratory infections Upper respiratory tract infections Upper respiratory tract infections, recurrent human_phenotype HP:0002788 Recurrent upper respiratory tract infections HP:0002788 Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. obo HP:0010737 MeSH:D010014 UMLS:C0029435 Increased bone resorption Osteolytic defects of bones human_phenotype HP:0002797 Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. Osteolysis HP:0002797 A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. obo MeSH:D020181 UMLS:C0520679 human_phenotype Obstructive sleep apnoea HP:0002870 Obstructive sleep apnea HP:0002870 The presence of a `neoplasm` (MPATH:218) of the `pancreas` (FMA:7198). obo HP:0004511 UMLS:C0235974 Cancer of the pancreas Neoplasia of the pancreas Pancreatic cancer human_phenotype increased risk of pancreatic cancer HP:0002894 Neoplasm of the pancreas HP:0002894 Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. obo HP:0001411 HP:0003143 HP:0003156 HP:0003293 HP:0006567 HP:0006578 HP:0008267 HP:0008342 UMLS:C0151766 UMLS:C0235996 UMLS:C0877359 UMLS:C1863696 Abnormal liver enzymes Abnormal liver function Abnormal liver function tests Elevated liver enzymes Elevated serum transaminases Elevated transaminases Increased liver enzymes Increased liver function tests Increased transaminases Subclinical abnormal liver function tests human_phenotype Elevated liver function tests HP:0002910 Elevated hepatic transaminases HP:0002910 An abnormally decreased `magnesium` (CHEBI:18420) concentration in the blood. obo HP:0003284 UMLS:C0151723 UMLS:C1866499 human_phenotype HP:0002917 Hypomagnesemia HP:0002917 High levels of ketone bodies in the urine. obo UMLS:C0162275 Ketonaciduria human_phenotype KETOACIDURIA HP:0002919 Ketonuria HP:0002919 obo UMLS:C1844666 human_phenotype HP:0002958 Immune dysregulation HP:0002958 The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601). obo UMLS:C0006142 Breast cancer human_phenotype HP:0003002 Breast carcinoma HP:0003002 obo HP:0006718 UMLS:C0007102 human_phenotype HP:0003003 Colon cancer HP:0003003 An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670). obo MP:0001559 MeSH:D006943 UMLS:C0020456 human_phenotype HP:0003074 Hyperglycemia HP:0003074 An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `urine` (FMA:12274). obo HP:0003122 MeSH:D006029 UMLS:C0017979 Glucosuria human_phenotype HP:0003076 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. Glycosuria HP:0003076 An elevated `lipid` (CHEBI:18059) concentration in the `blood` (FMA:9670). obo HP:0008159 MeSH:D006949 UMLS:C0020473 human_phenotype HP:0003077 Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). Hyperlipidemia HP:0003077 An abnormality in the of `lipid` (CHEBI:18059) metabolism. obo HP:0003611 human_phenotype Dyslipidemia HP:0003119 According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. Abnormality of lipid metabolism HP:0003119 An increased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670). obo HP:0008154 HP:0008173 HP:0008359 MeSH:D006937 UMLS:C1522133 Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol human_phenotype HP:0003124 Hypercholesterolemia HP:0003124 An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood and other bodily fluids. obo HP:0003255 HP:0005960 MeSH:D000140 UMLS:C1855560 Hyperlacticacidemia Lactic acidemia Lacticacidemia Lacticacidosis human_phenotype HP:0003128 Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. Lactic acidosis HP:0003128 An abnormally high level of `uric acid` (CHEBI:27226) in the `urine` (FMA:12274). obo UMLS:C0948643 human_phenotype HP:0003149 Hyperuricosuria HP:0003149 A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. obo HP:0003569 HP:0003705 HP:0003742 HP:0003802 UMLS:C0026848 Myopathic changes human_phenotype HP:0003198 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. Myopathy HP:0003198 The presence of skeletal muscular atrophy (which is also known as amyotrophy). obo HP:0001299 HP:0003545 HP:0003671 HP:0003702 HP:0003746 HP:0006995 HP:0007171 HP:0007356 HP:0009010 HP:0009048 HP:0100868 MeSH:D009133 UMLS:C0026846 Amyotrophy involving the extremities Muscle atrophy Muscle atrophy, neurogenic Muscle hypotrophy Muscle wasting Muscular atrophy Neurogenic muscle atrophy Neurogenic muscle atrophy, especially in the lower limbs Neurogenic muscular atrophy Skeletal muscle atrophy human_phenotype HP:0003202 Amyotrophy HP:0003202 Calcification affecting arteries. obo peter 2008-03-26T04:05:00Z UMLS:C1168153 human_phenotype HP:0003207 Arterial calcification HP:0003207 An decreased concentration of `high-density lipoprotein cholesterol` (CHEBI:47775) in the `blood` (FMA:9670). obo UMLS:C0151691 Decreased HDL cholesterol Decreased circulating high-density lipoprotein cholesterol Low HDL-cholesterol human_phenotype HP:0003233 Hypoalphalipoproteinemia HP:0003233 An increased amount of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670). obo HP:0003227 UMLS:C0700225 Elevated creatinine Increased creatinine Increased serum creatinine human_phenotype HP:0003259 Elevated serum creatinine HP:0003259 `Distention` (PATO:0001602) of the `abdomen` (FMA:9577). obo HP:0001542 HP:0003364 UMLS:C0000731 Abdominal distension Abdominal swelling Distended abdomen human_phenotype HP:0003270 Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. Abdominal distention HP:0003270 Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. obo UMLS:C0241013 Elevated serum ferritin Increased ferritin Increased serum ferritin level human_phenotype HP:0003281 Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. Increased serum ferritin HP:0003281 Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. obo HP:0002082 MeSH:D010292 UMLS:C2242996 Paresthesias human_phenotype HP:0003401 Paresthesia HP:0003401 obo MeSH:D001416 UMLS:C1963071 human_phenotype HP:0003418 Back pain HP:0003418 A type of `adult onset` with onset of symptoms at the age of 40 to 60 years. obo UMLS:C1969363 human_phenotype HP:0003596 Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. Middle age onset HP:0003596 Reduced strength and weakness of the muscles of the arms and legs. obo HP:0002534 UMLS:C1835991 Limb weakness human_phenotype HP:0003690 Limb muscle weakness HP:0003690 A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). obo MeSH:D011565 UMLS:C0033860 human_phenotype HP:0003765 Psoriasis HP:0003765 A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. obo HP:0000101 HP:0004725 HP:0004733 MeSH:D007676 UMLS:C0022661 Chronic renal failure End stage renal failure End-stage renal disease End-stage renal failure Stage 5 chronic kidney disease human_phenotype RENAL FAILURE, ENDSTAGE HP:0003774 Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. End stage renal disease HP:0003774 Death within the first 28 days of life. obo HP:0003820 HP:0003824 Neonatal lethal human_phenotype HP:0003811 Neonatal death HP:0003811 Death of the fetus in utero after at least 20 weeks of gestation. obo HP:0001624 HP:0001625 MeSH:D050497 UMLS:C0595939 Stillborn human_phenotype HP:0003826 Stillbirth HP:0003826 obo peter 2008-02-27T03:21:00Z MP:0001260 UMLS:C0043094 human_phenotype HP:0004324 Increased body weight HP:0004324 obo peter 2008-03-18T09:28:00Z UMLS:C1867742 Premature atherosclerosis human_phenotype HP:0004416 Precocious atherosclerosis HP:0004416 obo peter 2008-03-18T09:29:00Z MeSH:D007383 UMLS:C0021775 human_phenotype HP:0004417 Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. Intermittent claudication HP:0004417 Abnormal increase in systolic blood pressure. obo peter 2008-03-18T09:33:00Z HP:0004956 UMLS:C1840374 human_phenotype HP:0004421 Normal systolic blood pressure is less than 120 mmHg in adults. Elevated systolic blood pressure HP:0004421 Chronic inflammation of the bronchi. obo MeSH:D029481 UMLS:C0008677 human_phenotype HP:0004469 Chronic bronchitis HP:0004469 obo UMLS:C0017668 human_phenotype HP:0004747 focal glomerulosclerosis HP:0004747 A type of `Abnormal glucose tolerance` (HP:0001952) observed following administration of an oral bolus of glucose. obo UMLS:C1847425 Abnormal glucose oral tolerance test human_phenotype HP:0004924 Abnormal oral glucose tolerance HP:0004924 Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. obo UMLS:C0010054 Coronary artherosclerosis human_phenotype HP:0004929 Coronary atherosclerosis HP:0004929 Abnormal calcification of the `vasculature` (FMA:69050). obo MeSH:D061205 UMLS:C0342649 human_phenotype HP:0004934 Vascular calcification HP:0004934 obo UMLS:C1849618 human_phenotype HP:0004943 Accelerated atherosclerosis HP:0004943 obo HP:0004973 MeSH:D058729 UMLS:C1704436 Peripheral vascular-disease human_phenotype HP:0004950 Peripheral arterial disease HP:0004950 obo UMLS:C0162871 human_phenotype HP:0004953 Abdominal aortic aneurysm HP:0004953 An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. obo peter 2008-03-25T06:29:00Z HP:0001715 HP:0005179 MeSH:D001281 UMLS:C0004238 human_phenotype HP:0005110 The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. Atrial fibrillation HP:0005110 obo UMLS:C0242231 human_phenotype HP:0005145 Coronary artery stenosis HP:0005145 obo UMLS:C1969291 human_phenotype HP:0005303 Aortic arch calcification HP:0005303 A type of `carcinoma` (MPATH:549) of the `kidney` (FMA:7203) with origin in the epithelium of the `proximal convoluted renal tubule` (FMA:17693). obo HP:0006720 MeSH:D002292 UMLS:C1378703 Hypernephroma Renal carcinoma human_phenotype HP:0005584 Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. Renal cell carcinoma HP:0005584 obo UMLS:C1969875 human_phenotype HP:0006279 Beta-cell dysfunction HP:0006279 A `chronic` (PATO:0001863) form of `pancreatitis` (HP:0001733). obo MeSH:D050500 human_phenotype HP:0006280 Chronic pancreatitis HP:0006280 obo human_phenotype HP:0006510 Chronic obstructive pulmonary disease HP:0006510 According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. obo UMLS:C0746102 human_phenotype HP:0006528 Chronic lung disease HP:0006528 Obstruction of conducting airways of the lung. obo HP:0006512 MeSH:D008173 UMLS:C0600260 human_phenotype HP:0006536 Obstructive lung disease HP:0006536 A `diffuse` (PATO:0001513) form of `hepatic steatosis` (HP:0001397). obo Hepatic steatosis, diffuse human_phenotype HP:0006555 Diffuse hepatic steatosis HP:0006555 An increase in the amount of glycogen stored in hepatocytes compared to normal. obo UMLS:C1856285 Increased liver glycogen content human_phenotype HP:0006568 Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. Increased hepatic glycogen content HP:0006568 `Steatosis` (MPATH:622) in the `myocardium` (FMA:9462). obo human_phenotype HP:0006693 Myocardial steatosis HP:0006693 Retinal lesions can occur due to multiple reasons for example as a result of decreased blood supply to the retina, angiomas in case of von Hipple-Lindau disease, disseminated bacterial and candidal infections, astrocytic hamartomas (so called phakomas) and many more. obo UMLS:C1402302 human_phenotype HP:0007863 Retinal lesions HP:0007863 Age-related macular degeneration (AMD) is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field (the macula) because of damage to the retina. obo UMLS:C0242383 Senile macular degeneration human_phenotype HP:0007868 Age-related macular degeneration HP:0007868 A type of retinal detachment associated with traction exerted by fibrous or fibrovascular tissue. The fibrous tissue is visible in the vitreous and may be the result of injury, inflammation or neovascularization. If such membranes contract, they pull the sensory retina apart from the underlying retinal pigment epithelium. obo UMLS:C1866178 human_phenotype HP:0007917 Tractional retinal detachment HP:0007917 An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) in the `blood` (FMA:9670) in the fasting state, i.e., not as the response to food intake. obo human_phenotype HP:0008283 Fasting hyperinsulinemia HP:0008283 obo UMLS:C0865199 human_phenotype HP:0008356 Combined hyperlipidemia HP:0008356 An abnormal accumulation of lipids in skeletal muscle. obo HP:0100949 Fat accumulation in muscle fibers Fat deposits in muscle fibers Lipid accumulation in skeletal muscle Muscle lipidosis Skeletal muscle lipid accumulation human_phenotype HP:0009058 Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. Increased muscle lipid content HP:0009058 Degenerative changes of the fat tissue. obo peter 2008-04-05T11:40:00Z MeSH:D008060 UMLS:C0023787 human_phenotype HP:0009125 Lipodystrophy HP:0009125 An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). obo peter 2008-04-05T11:43:00Z human_phenotype HP:0009126 Increased adipose tissue HP:0009126 Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. obo doelkens 2009-02-12T05:44:58Z MeSH:D016640 UMLS:C0085207 gestational diabetes maternal hyperglycemia human_phenotype HP:0009800 Maternal diabetes HP:0009800 Peripheral neuropathy is a general term for any disorder of the `peripheral nervous system` (FMA:9903). The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. obo peter 2009-03-01T07:49:18Z HP:0003407 HP:0007088 HP:0007235 HP:0007355 UMLS:C0031117 human_phenotype Neuropathy HP:0009830 Peripheral neuropathy HP:0009830 A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. obo peter 2009-03-01T08:27:29Z MeSH:D020422 UMLS:C0494491 human_phenotype HP:0009831 Mononeuropathy HP:0009831 An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. obo peter 2009-09-21T08:53:35Z MeSH:D012891 UMLS:C0037315 Sleep apnoea human_phenotype HP:0010535 Sleep apnea HP:0010535 An abnormal increase in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670). obo peter 2011-02-07T10:56:30Z UMLS:C0020476 human_phenotype HP:0010980 Hyperlipoproteinemia HP:0010980 A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. obo peter 2011-02-08T10:12:39Z human_phenotype HP:0010982 Polygenic inheritance HP:0010982 Abnormality of `glucose homeostasis` (GO:0042593). obo peter 2011-02-21T10:37:21Z human_phenotype HP:0011014 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. Abnormal glucose homeostasis HP:0011014 The presence of `amyloid deposition` (MPATH:34) in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. obo peter 2011-03-06T10:56:39Z MeSH:D000686 human_phenotype HP:0011034 The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. Amyloidosis HP:0011034 Onset of disease at the age of between 15 and 40 years. obo peter 2012-03-25T07:01:15Z human_phenotype HP:0011462 Young adult onset HP:0011462 Onset of disease at the age of between 1 and 5 years. obo peter 2012-03-25T07:16:20Z HP:0003586 HP:0003617 human_phenotype HP:0011463 Childhood onset HP:0011463 Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. obo peter 2012-04-09T12:47:32Z HP:0001656 HP:0001661 HP:0001665 HP:0001666 HP:0001687 HP:0001721 HP:0004351 HP:0005158 MeSH:D001145 UMLS:C0237314 UMLS:C0855329 Abnormal electrocardiogram Abnormality of cardiac conduction Arrhythmias Cardiac arrhythmia Cardiac arrhythmias Cardiac conduction abnormalities Cardiac conduction defects Cardiac rhythm disturbances ECG abnormality EKG abnormality Ekg abnormalities Electrocardiographic changes Heart rhythm disorders Irregular heart beat Irregular heartbeat human_phenotype HP:0011675 Arrhythmia HP:0011675 An infection of the upper or lower respiratory tract. obo peter 2012-06-21T08:26:36Z MeSH:D012141 Respiratory infection human_phenotype HP:0011947 Respiratory tract infection HP:0011947 Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. obo peter 2012-07-18T08:39:48Z human_phenotype HP:0011970 Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Cerebral amyloid angiopathy HP:0011970 An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal. obo peter 2012-07-19T12:07:59Z human_phenotype HP:0011998 Postprandial hyperglycemia HP:0011998 Inflammation of the liver. obo hecht 2012-09-16T05:03:29Z MeSH:D006505 human_phenotype HP:0012115 Hepatitis HP:0012115 A cancer of the `prostate` (FMA:9600). obo hecht 2012-09-16T06:33:32Z MeSH:D011471 Prostatic cancer human_phenotype HP:0012125 Prostate cancer HP:0012125 obo doelkens 2010-12-17T06:19:35Z MeSH:D014808 human_phenotype HP:0100512 Vitamin D deficiency HP:0100512 Painful or difficult `urination` (GO:0060073). obo doelkens 2010-12-20T10:40:36Z MeSH:D053159 human_phenotype HP:0100518 Dysuria HP:0100518 `Inflammation` (MPATH:212) of `fascia` (FMA:30318). obo doelkens 2010-12-20T05:59:18Z MeSH:D005208 UMLS:C0015645 human_phenotype HP:0100537 Fasciitis HP:0100537 Abnormality in the process of thought including the ability to process information. obo doelkens 2010-12-20T06:50:32Z HP:0002128 HP:0002129 HP:0002302 HP:0002337 HP:0002441 HP:0006972 HP:0006998 HP:0007211 UMLS:C0683322 UMLS:C1856145 Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment human_phenotype HP:0100543 Cognitive impairment HP:0100543 An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. obo doelkens 2010-12-27T05:26:33Z MeSH:D004461 human_phenotype HP:0100601 Eclampsia HP:0100601 obo doelkens 2011-06-06T05:06:26Z human_phenotype HP:0100732 Pancreatic fibrosis HP:0100732 obo doelkens 2011-06-06T06:36:48Z MeSH:D002637 human_phenotype HP:0100749 Chest pain HP:0100749 A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). obo doelkens 2011-06-07T10:19:11Z MeSH:D005734 UMLS:C0017086 human_phenotype HP:0100758 This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. Gangrene HP:0100758 Systemic inflammatory response to infection. obo doelkens 2011-06-09T01:05:51Z MeSH:D018805 human_phenotype HP:0100806 Sepsis HP:0100806 The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751). obo doelkens 2011-06-09T04:48:35Z HP:0008741 MeSH:D006978 Hypertension due to renal artery hyperplasia human_phenotype HP:0100817 Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. Renovascular hypertension HP:0100817 Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. obo doelkens 2011-06-09T04:59:55Z human_phenotype HP:0100820 Glomerulopathy HP:0100820 An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. obo doelkens 2011-06-23T11:13:16Z HP:0001296 Mood alterations human_phenotype HP:0100852 Abnormal fear/anxiety-related behavior HP:0100852 obo doelkens 2012-01-18T06:11:19Z MeSH:D006941 Hyperaesthesia human_phenotype HP:0100963 Hyperesthesia HP:0100963 A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. obo sebastiankohler 2010-06-18T02:17:00Z MeSH:D012883 human_phenotype HP:0200042 Skin ulcer HP:0200042 OBSOLETE. reduction in amount or absence of adipose tissue beneath the skin obo MP:0008843 MP:0008844 MPheno.ontology MP:0000012 Obsolete. Use instead the terms decreased subcutaneous adipose tissue amount (MP:0008844) or absent subcutaneous adipose tissue (MP:0008843). loss of subcutaneous adipose tissue 1 MP:0000012 reduction in the amount of mineral per square centimeter of bone (usually g/cm2), used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size obo MP:0010121 decreased BMD decreased bone density osteopenia reduced BMD reduced bone density reduced bone mineral density MPheno.ontology MP:0000063 decreased bone mineral density MP:0000063 greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions obo elevated LDL cholesterol level elevated circulating LDL cholesterol level high LDL cholesterol level increased LDL cholesterol level MPheno.ontology MP:0000182 increased circulating LDL cholesterol level MP:0000182 greater than normal number of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue obo increased WBC count increased WBC number increased leukocyte count increased white blood cell number leukocytosis MPheno.ontology MP:0000218 increased leukocyte cell number MP:0000218 inability or defects in ability to repair muscle after injury or disease obo MP:0002547 muscle regeneration muscle regeneration abnormalities MPheno.ontology MP:0000750 abnormal muscle regeneration MP:0000750 OBSOLETE. any malformation or anomaly in the entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses obo MP:0003633 MP:0006387 nervous system defects MPheno.ontology MP:0000768 nervous system abnormalities 1 MP:0000768 larger than average body weight, height and/or length of an organism compared to controls obo GO:0040007 GO:0040014 increased size large body size MPheno.ontology MP:0001264 increased body size MP:0001264 general reduced locomotor activity; reduced movement from one place to another or having a decreased state of activity obo MP:0001419 decreased locomotor activity hypoactive hypolocomotion reduced activity in horizontal open field test underactive MPheno.ontology MP:0001402 hypoactivity MP:0001402 abnormally high concentration of lipids in the circulating blood obo hyperlipemia lipemia MPheno.ontology MP:0001548 hyperlipidemia MP:0001548 greater concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver obo MP:0005142 elevated plasma triacylglycerol level elevated plasma triglyceride level elevated serum triacylglycerol level elevated serum triglyceride level MPheno.ontology hypertriglyceridemia MP:0001552 increased circulating triglyceride level MP:0001552 higher than normal levels of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues obo increased FFA level increased UFA level increased circulating non-esterified fatty acids level increased unesterified fatty acids level elevated serum free fatty acid levels MPheno.ontology increased NEFA level increased free fatty acids level MP:0001554 increased circulating free fatty acid level MP:0001554 an increase in size of the cardiac tissue, not due to increased cell number obo MPheno.ontology MP:0001625 cardiac hypertrophy MP:0001625 greater than or fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute obo MP:0000305 MPheno.ontology MP:0001629 abnormal heart rate MP:0001629 reduced ability or inability to self-repair and close wounds obo impaired wound repair MPheno.ontology MP:0001792 impaired wound healing MP:0001792 aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues obo inflammation inflammatory response MPheno.ontology MP:0001845 abnormal inflammatory response MP:0001845 greater than expected response to injury, infection, or insult obo MPheno.ontology MP:0001846 increased inflammatory response MP:0001846 local accumulation of fluid, plasma proteins, and leukocytes in the kidney obo nephritis renal inflammation MPheno.ontology MP:0001859 kidney inflammation MP:0001859 local accumulation of fluid, plasma proteins, and leukocytes in the liver obo hepatic inflammation hepatitis MPheno.ontology MP:0001860 liver inflammation MP:0001860 local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel obo MPheno.ontology MP:0001863 vascular inflammation MP:0001863 diffuse hyperplasia of the spinous layer of the skin obo spinous layer hyperplasia MPheno.ontology MP:0001874 acanthosis MP:0001874 physical difficulty or inability to breathe; shortness of breath obo MP:0002317 dyspnea gasping labored breathing shortness of breath MPheno.ontology MP:0001954 respiratory distress MP:0001954 breathing that is shallower and/or slower than normal obo MPheno.ontology MP:0001956 hypopnea MP:0001956 a greater than average point at which thermal pain sensation is first detectable obo decreased thermal nociception prolonged latency in hot plate test thermal hypoalgesia MPheno.ontology MP:0001973 increased thermal nociceptive threshold MP:0001973 presence of a malignant neoplasm arising from epithelial cells, usually glandular or squamous obo MPheno.ontology MP:0002038 carcinoma MP:0002038 elevated concentration of CO2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases obo increased partial CO2 level MPheno.ontology MP:0002318 hypercapnia MP:0002318 aberrant early and often transient reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response obo acute inflammation leukocyte infiltration MPheno.ontology MP:0002498 abnormal acute inflammation MP:0002498 OBSOLETE. functional anomaly of any of the endogenous compounds that mediate the local accumulation of fluid, plasma proteins, and leukocytes at the site of injury, insult, or infection obo inflammatory mediators MPheno.ontology MP:0002501 abnormal inflammatory mediator physiology 1 MP:0002501 OBSOLETE. obo MPheno.ontology MP:0002611 glucose homeostasis traits 1 MP:0002611 greater than normal production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes obo elevated glucagon secretion MPheno.ontology MP:0002710 increased glucagon secretion MP:0002710 less than normal levels of insulin in the blood obo hypoinsulinemia reduced circulating insulin level MPheno.ontology MP:0002727 decreased circulating insulin level MP:0002727 increased tension of the blood within the systemic arteries obo high blood pressure MPheno.ontology MP:0002842 increased systemic arterial blood pressure MP:0002842 decreased tension of the blood within the systemic arteries obo low blood pressure reduced blood pressure MPheno.ontology MP:0002843 decreased systemic arterial blood pressure MP:0002843 presence of excess albumin in the urine obo MP:0005539 increased albumin excretion increased urine albumin level MPheno.ontology MP:0002871 albuminuria MP:0002871 easily exhausted due to mental or physical exertion obo fatigability fatigable MPheno.ontology MP:0002899 fatigue MP:0002899 longer time requirement for the ability to self-repair and close wounds than normal obo MPheno.ontology MP:0002908 delayed wound healing MP:0002908 increased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction obo elevated ALT level elevated GPT level elevated SGPT level elevated alanine transaminase level elevated circulating alanine transaminase level elevated glutamate pyruvate transaminase level elevated glutamic-pyruvic transaminase level increased ALT level increased GPT level increased SGPT level increased glutamate pyruvate transaminase level increased glutamic-pyruvic transaminase level MPheno.ontology MP:0002941 increased circulating alanine transaminase level MP:0002941 greater than the normal amount of microalbumin in the urine obo increased microalbumin excretion microalbuminuria MPheno.ontology MP:0002959 increased urine microalbumin level MP:0002959 decreased sensitivity to painful stimuli; can be due to chemical intervention, neuropathies or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area) obo increased pain threshold MPheno.ontology MP:0003043 hypoalgesia MP:0003043 invasion of fibrous connective tissue into any organ or multiple organs, often resulting from inflammation or injury obo MPheno.ontology MP:0003045 fibrosis MP:0003045 greater production or release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids obo elevated insulin secretion MPheno.ontology MP:0003058 increased insulin secretion MP:0003058 reduction in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids obo reduced insulin secretion MPheno.ontology MP:0003059 decreased insulin secretion MP:0003059 greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases obo MPheno.ontology MP:0003070 increased vascular permeability MP:0003070 formation of fibrous tissue within the heart often resulting from inflammation or injury obo MPheno.ontology MP:0003141 cardiac fibrosis MP:0003141 increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave obo increased QT interval widened QT interval MPheno.ontology long QT syndrome MP:0003233 A prolonged QT interval is a risk factor for ventricular tachyarrhythmias and sudden death. It varies with heart rate and for clinical relevance requires a correction for this, giving the QTc. prolonged QT interval MP:0003233 invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury obo hepatic fibrosis MPheno.ontology MP:0003333 liver fibrosis MP:0003333 reduced average weight of the bile-secreting exocrine gland obo decreased hepatic weight reduced hepatic weight reduced liver weight MPheno.ontology MP:0003402 decreased liver weight MP:0003402 local accumulation of fluid, plasma proteins, and leukocytes in the vagina obo vaginitis MPheno.ontology MP:0003541 vaginal inflammation MP:0003541 anomaly in the production or release of the hormone secreted by beta cells of the pancreas that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids obo MPheno.ontology MP:0003564 abnormal insulin secretion MP:0003564 anomaly in the production or release of this hormone secreted by the alpha cells of the islets of Langerhans; it normally plays a role in regulation of blood glucose concentration, ketone metabolism, and other biochemical and physiological processes obo MPheno.ontology MP:0003565 abnormal glucagon secretion MP:0003565 failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur obo renal insufficiency renal failure MPheno.ontology MP:0003606 kidney failure MP:0003606 increased muscle exhaustion or increased susceptibility to muscle exhaustion obo muscle fatigability MPheno.ontology MP:0003646 muscle fatigue MP:0003646 condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma obo MPheno.ontology increased ROS production increased reactive oxygen species production MP:0003674 oxidative stress MP:0003674 a deposit of cholesterol rich material in a tissue, most often in the skin but also seen in tendons and in the brain obo MPheno.ontology MP:0003692 xanthoma MP:0003692 presence of abnormal rapidly proliferating cells in the lip, usually in the form of a distinct mass obo MPheno.ontology MP:0003780 lip tumor MP:0003780 earlier than normal occurrence of the normal signs of aging obo MPheno.ontology MP:0003786 premature aging MP:0003786 any structural anomaly of the left lower chamber of the heart obo Fyler:1810 LV abnormality abnormal LV abnormal left ventricle morphology MPheno.ontology MP:0003921 abnormal heart left ventricle morphology MP:0003921 less than average fat-free physical bulk or volume of the body including all its components except adipose and bone tissue obo reduced lean body mass MPheno.ontology MP:0003961 decreased lean body mass MP:0003961 formation of fibrous tissue in the kidney as a result of repair or a reactive process obo kidney fibrosis MPheno.ontology MP:0003985 renal fibrosis MP:0003985 inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease obo MPheno.ontology MP:0004120 cardiac ischemia MP:0004120 reduced concentration of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue obo reduced adiponectin level MPheno.ontology MP:0004893 decreased adiponectin level MP:0004893 reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases obo decreased partial O2 level MPheno.ontology MP:0005039 hypoxia MP:0005039 formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements obo MPheno.ontology MP:0005048 thrombosis MP:0005048 greater than the normal amount in the blood of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues obo MP:0001550 MP:0002615 elevated total circulating cholesterol level elevated total plasma cholesterol level elevated total serum cholesterol level high serum cholesterol level hypercholesterolemia increased total circulating cholesterol level increased total plasma cholesterol level increased total serum cholesterol level MPheno.ontology MP:0005178 increased circulating cholesterol level MP:0005178 hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes obo glomerular sclerosis MPheno.ontology MP:0005264 glomerulosclerosis MP:0005264 greater than the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body obo MPheno.ontology MP:0005289 increased oxygen consumption MP:0005289 less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals obo glucose intolerance poor glucose tolerance reduced glucose tolerance MPheno.ontology MP:0005293 impaired glucose tolerance MP:0005293 greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver obo elevated triglyceride level MPheno.ontology MP:0005317 increased triglyceride level MP:0005317 fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute obo bradycardia bradyrhythmia reduced heart rate MPheno.ontology MP:0005333 decreased heart rate MP:0005333 thickening and loss of elasticity of arterial walls, involving plaque-like lipid deposition and thickening of intimal layers within arteries; progresses to narrowing of arterial lumens with fibrosis and calcification resulting in restriction of blood flow obo atherosclerosis MPheno.ontology MP:0005338 atherosclerotic lesions MP:0005338 obo MPheno.ontology MP:0005369 muscle phenotype MP:0005369 the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan obo MPheno.ontology MP:0005375 adipose tissue phenotype MP:0005375 obo cell phenotype MPheno.ontology MP:0005384 cellular phenotype MP:0005384 retrogressive pathologic change in the single process of a nerve cell obo axonal degeneration MPheno.ontology MP:0005405 axon degeneration MP:0005405 OBSOLETE. increase in weight over existing weight obo MP:0001260 MP:0005455 MP:0010182 MP:0011117 MPheno.ontology MP:0005456 weight gain 1 MP:0005456 overdevelopment or increased size of the clusters of hormone-producing cells that are scattered throughout the pancreas, usually due an increased number of cells obo MPheno.ontology MP:0005491 pancreatic islet hyperplasia MP:0005491 less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time obo decreased GFR decreased kidney glomerular filtration rate reduced kidney glomerular filtration rate reduced renal glomerular filtration rate MPheno.ontology MP:0005528 decreased renal glomerular filtration rate MP:0005528 less than the normal amount of this creatine metabolite filtered by the kidneys in a specific period of time; indicative of kidney function obo reduced creatinine clearance MPheno.ontology MP:0005558 decreased creatinine clearance MP:0005558 greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source obo increased glucose level MPheno.ontology MP:0005559 increased circulating glucose level MP:0005559 enhanced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network obo enhanced angiogenesis MPheno.ontology MP:0005601 increased angiogenesis MP:0005601 disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary obo MPheno.ontology MP:0005638 hemochromatosis MP:0005638 greater than normal programmed cell death obo MPheno.ontology MP:0006042 increased apoptosis MP:0006042 greater than normal average of a measure of weight for height obo increased BMI MPheno.ontology MP:0006087 increased body mass index MP:0006087 increased size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals obo adipocyte hypertrophy fat cell hypertrophy MPheno.ontology lipocyte hypertrophy MP:0006094 increased fat cell size MP:0006094 inadequate blood flow to and/or oxygenation of the heart producing chest pain obo angina pectoris MPheno.ontology MP:0006112 angina MP:0006112 abnormal decrease in the pressure in the arteries as the heart contracts and pumps blood into the arteries obo reduced systolic blood pressure MPheno.ontology MP:0006264 decreased systemic arterial systolic blood pressure MP:0006264 greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule obo increased HbA1c level increased glycosylated hemoglobin A1c level MPheno.ontology MP:0006353 increased glycosylated hemoglobin level MP:0006353 reduction in the rate of the hydrolysis of fat into free fatty acids obo decreased lipolysis reduced lipolysis MPheno.ontology MP:0008033 impaired lipolysis MP:0008033 increase in the rate of the hydrolysis of fat into free fatty acids obo increased lipolysis MPheno.ontology MP:0008034 enhanced lipolysis MP:0008034 increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts obo increased B cell stimulatory factor-2 secretion increased B-cell differentiation factor secretion increased B-cell differentiation factor-2 secretion increased B-cell stimulatory factor 2 secretion increased B-cell stimulatory factor-2 secretion increased BSF-2 secretion increased IFN-beta 2 secretion increased IL-6 secretion increased IL6 secretion increased MGI-2 secretion increased hepatocyte-stimulating factor secretion increased hybridoma growth factor secretion increased myeloid differentiation-inducing protein secretion increased plasmacytoma growth factor secretion MPheno.ontology MP:0008705 increased interleukin-6 secretion MP:0008705 a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls obo decreased survival rate low survival rate low survivor rate reduced survival rate reduced survivor rate MPheno.ontology reduced viability MP:0008770 This term is used in conjunction with other lethality terms when the lethality is only partially expressed. For example, use this term when some individuals of a defined population die as embryos, neonates or by weaning, with some percentage of individuals surviving the lethal phase and achieving a normal life span. decreased survivor rate MP:0008770 formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina obo MPheno.ontology MP:0008852 retinal neovascularization MP:0008852 greater total physical bulk or volume of a pancreatic beta cell compared to the normal state obo MPheno.ontology MP:0009113 increased pancreatic beta cell mass MP:0009113 reduced total physical bulk or volume of a pancreatic beta cell compared to the normal state obo reduced pancreatic beta cell mass MPheno.ontology MP:0009114 decreased pancreatic beta cell mass MP:0009114 increase in the size of the clusters of hormone-producing cells that are scattered throughout the pancreas obo enlarged islands of Langerhans enlarged islet cell enlarged islet of Langerhans increased islands of Langerhans size increased islet cell size increased islet of Langerhans size MPheno.ontology MP:0009171 enlarged pancreatic islets MP:0009171 malignant neoplasm of epithelial cells in a glandular or glandular-like pattern obo glandular cancer glandular carcinoma MPheno.ontology MP:0009308 adenocarcinoma MP:0009308 increase in the ability of one platelet to one or more other platelets via adhesion molecules obo increased blood platelet aggregation increased thrombocyte aggregation MPheno.ontology MP:0009586 increased platelet aggregation MP:0009586 an excess of urea, creatinine, and other nitrogenous end products of protein and amino acid metabolism in the blood; usually indicative of kidney dysfunction obo azotemia uraemia MPheno.ontology MP:0009644 uremia MP:0009644 increase in average weight at birth compared to controls obo MPheno.ontology MP:0009673 increased birth weight MP:0009673 reduction in average weight at birth compared to controls obo reduced birth weight MPheno.ontology MP:0009674 decreased birth weight MP:0009674 a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur obo VPB VPC extrasystole premature ventricular contraction ventricular ectopic beat ventricular premature contraction MPheno.ontology PVC premature ventricular complex MP:0009732 ventricular premature beat MP:0009732 an increase in the time required for solids or liquids to leave the stomach and enter the intestines obo delayed gastric emptying gastroparesis MPheno.ontology MP:0009854 impaired gastric peristalsis MP:0009854 greater than the normal total amount of connective tissue composed of fat cells within the entire body obo csmith 2010-02-22T12:58:49Z MP:0005453 increased adipose tissue amount increased adiposity increased total body adipose tissue amount MPheno.ontology increased body fat MP:0010024 increased total body fat amount MP:0010024 reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area obo csmith 2010-04-12T02:02:01Z decreased BMC reduced BMC reduced bone mineral content MPheno.ontology MP:0010124 decreased bone mineral content MP:0010124 any anomaly in the pattern of the graphic record of the integrated action currents of the cardiac cycle represented as changes in voltage; the prominent waves in the ECG correspond to specific conduction activity in areas of the heart and the timing and amplitude of ECG waveforms provide valuable information about heart rate and rhythm obo csmith 2010-09-30T04:16:30Z abnormal ECG abnormal EKG abnormal cardiac electrocardiography MPheno.ontology abnormal heart ECG waveform features MP:0010508 abnormal heart electrocardiography waveform feature MP:0010508 pathologic deposition of calcium salts in the aorta obo csmith 2010-10-01T12:23:16Z aorta calcification aortic calcification MPheno.ontology MP:0010522 calcified aorta MP:0010522 anomaly in the process of removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen obo csmith 2011-03-23T03:45:21Z GO:0034440 MPheno.ontology MP:0010951 abnormal lipid oxidation MP:0010951 abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs obo csmith 2011-03-31T11:49:24Z PAP alveolar lipoproteinosis alveolar phospholipidosis alveolar proteinosis pulmonary alveolar lipoproteinosis pulmonary alveolar phospholipoproteinosis MPheno.ontology MP:0010998 pulmonary alveolar proteinosis MP:0010998 increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells obo csmith 2011-10-14T12:11:55Z accumulated mesangial matrix expanded extracellular mesangial matrix expanded mesangial extracellular matrix increase in mesangial matrix mesangial matrix expansion mesangial sclerosis thickened mesangial matrix MPheno.ontology MP:0011353 expanded mesangial matrix MP:0011353 formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process obo csmith 2011-10-19T12:42:42Z fibrotic glomerular capillaries fibrotic glomeruli kidney glomerular fibrosis kidney glomerulus fibrosis renal glomerular fibrosis MPheno.ontology MP:0011377 renal glomerulus fibrosis MP:0011377 a diffuse pyogenic infection of the pelvis and parenchyma of the kidney; an ascending urinary tract infection that has reached the pyelum or pelvis of the kidney usually resulting from noncontagious bacterial infection of the bladder obo csmith 2011-10-24T01:05:42Z nephropyelitis MPheno.ontology MP:0011403 pyelonephritis MP:0011403 increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule obo csmith 2011-10-31T04:22:16Z GBM thickening thick renal glomerulus basement membrane thickened renal glomerulus basement membrane MPheno.ontology MP:0011409 increased renal glomerulus basement membrane thickness MP:0011409 an injurious glomerular process that affects primarily the mesangium, starting with loosening and detachment of its matrix and progressing to dissolution/attenuation with degeneration of mesangial cells; mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis obo csmith 2011-11-08T04:13:05Z dissolution of the mesangial matrix mesangial cell degeneration MPheno.ontology MP:0011430 mesangiolysis MP:0011430 increased frequency of urination episodes; urination at short frequent intervals occurs without an increase in daily volume of urinary output and may be caused by reduced bladder capacity or urinary tract infection obo csmith 2011-12-13T12:18:30Z decreased urine voiding intervals frequent urination increased number of micturition episodes increased urinary frequency pollachiuria pollacisuria pollakisuria pollakiuria MPheno.ontology MP:0011535 increased urination frequency MP:0011535 greater ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate obo csmith 2012-01-26T01:31:29Z increased HSL increased diacylglycerol acylhydrolase activity MPheno.ontology MP:0011590 increased hormone-sensitive lipase activity MP:0011590 reduced ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate obo csmith 2012-01-26T01:31:29Z decreased ATP:D-glucose 6-phosphotransferase activity decreased glucokinase (phosphorylating) decreased glucose kinase activity MPheno.ontology MP:0011606 decreased glucokinase activity MP:0011606 greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland obo csmith 2012-02-28T12:47:30Z hyperghrelinemia increased serum ghrelin level increased plasma ghrelin level MPheno.ontology MP:0011612 increased circulating ghrelin level MP:0011612 the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid obo csmith 2012-04-12T01:40:51Z swollen mitochondria MPheno.ontology MP:0011632 dilated mitochondria MP:0011632 A phenotype is an observable characteristic of an individual. SIO:010056 phenotype SIO:010056 efo:EFO_0000410 disease_staging http://mged.sourceforge.net/ontologies/MGEDOntology.owl#disease_staging disease_staging[accessedResource: MO_792][accessDate: 05-04-2011] The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer MO_792 James Malone Jie Zheng Tomasz Adamusiak Dukes C stage describing colon cancer disease staging false false DIAB_000016 Describes the causative relation between a phenotype and a disease. cause_of false DIAB_000014 Describes the symptomatic relation of a phenotype and a disease. symptom_of false DIAB_000015 Describes the manifestation of a phenotype in a disease or disease stage. manifests_in