Diseases associated to hPSCreg cell lines

  1. 47,XXX Syndrome 47,xxx, 47,xxx syndrome, triple x syndrome, trisomy x

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    A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language.

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  2. 4H leukodystrophy polr-related leukodystrophy

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    A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.

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  3. 6q27 6q27

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    A chromosome band present on 6q

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  4. 7q11.23 microduplication syndrome 7q11.23 duplication syndrome, chromosome 7q11.23 duplication syndrome, chromosome 7q11.23 triplication syndrome, dup(7)(q11.23), somerville-van der aa syndrome, trisomy 7q11.23, wbs duplication syndrome, wbs triplication syndrome, williams-beuren region duplication syndrome

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    7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal [...]

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  5. aceruloplasminemia aceruloplasminemia, cerebellar ataxia, ceruloplasmin deficiency, familial apoceruloplasmin deficiency, hemosiderosis, systemic, due to aceruloplasminemia, hereditary ceruloplasmin deficiency, hypoceruloplasminemia, hypoceruloplasminemia, hereditary, systemic hemosiderosis due to aceruloplasminemia

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    An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

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  6. achromatopsia achm, achromatopsia, complete or incomplete color blindness, complete or incomplete colour blindness, monochromatism, pingelapese blindness, rod monochromacy, rod monochromatism, total color blindness, total colour blindness

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    Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.; Editor note: we include incomplete forms here, such as BCM

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  7. Achromatopsia achm, complete or incomplete color blindness, pingelapese blindness, rod monochromacy, rod monochromatism, total color blindness

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    A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

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  8. Acromesomelic dysplasia

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  9. Activated PI3K-delta syndrome apds, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

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    A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and [...]

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  10. Acute lymphoblastic leukemia acute lymphatic leukaemia, acute lymphatic leukemia, acute lymphoblastic leukaemia, acute lymphocytic leukaemia, acute lymphocytic leukemia, acute lymphoid leukaemia, acute lymphoid leukemia

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    A form of acute leukemia characterized by excess lympoblasts.

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  11. Acute myeloid leukemia acute myeloblastic leukaemia, acute myeloblastic leukemia, acute myelocytic leukaemia, acute myelocytic leukemia, acute myelogenous leukaemia, acute myelogenous leukemia, acute myeloid leukaemia, aml

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    A form of leukemia characterized by overproduction of an early myeloid cell.

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  12. acute promyelocytic leukemia acute myeloblastic leukaemia 3, acute myeloblastic leukaemia type 3, acute myeloblastic leukemia 3, acute myeloblastic leukemia type 3, acute myeloid leukaemia m3, acute myeloid leukaemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloid leukemia m3, acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute promyelocytic leukaemia with pml-rara, acute promyelocytic leukaemia with t(15;17)(q22;q12); pml-rara, acute promyelocytic leukaemia with t(15;17)(q22;q12); pml/rara, acute promyelocytic leukemia, acute promyelocytic leukemia with pml-rara, acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara, acute promyelocytic leukemia with t(15;17)(q22;q12); pml/rara, aml m3, aml with t(15;17)(q22;q12), aml with t(15;17)(q22;q12);(pml/raralpha) and variants, apl, apml, apml - acute promyelocytic leukaemia, apml - acute promyelocytic leukemia, fab m3, leukemia, acute promyelocytic, leukemia, acute promyelocytic, somatic, promyelocytic leukaemia, promyelocytic leukemia

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    Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.; An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to [...]

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  13. ADNP syndrome adnp-related syndromic intellectual disability-autism spectrum disorder, helsmoortel-van der aa syndrome, hvdas

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    A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

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  14. ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder adnp syndrome, adnp-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, autosomal dominant intellectual disability 28, autosomal dominant mental retardation 28, helsmoortel-van der aa syndrome, hvdas, intellectual disability, autosomal dominant 28, mental retardation, autosomal dominant 28, mrd28

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    An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

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  15. Adrenoleukodystrophy adrenoleukodystrophy, schilder disease

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    A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.

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  16. adult-onset leukoencephalopathy with axonal spheroids and pigmented glia hereditary diffuse leukoencephalopathy with spheroids

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    A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32.

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  17. African Swine Fever Virus

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  18. age-related macular degeneration age related macular degeneration, age related maculopathies, age related maculopathy, age-related macular degeneration, amd, armd, macular degeneration, age-related, senile macular degeneration, senile macular retinal degeneration

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    Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.

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  19. Age-Related Macular Degeneration age-related macular degeneration, amd, armd

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    Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.

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  20. age-related macular degeneration aamd - age related macular degeneration, age relat maculopathies, age relat maculopathy, age related macular degeneration, age related macular degeneration (disorder) [ambiguous], age related maculopathies, age related maculopathy, age-related macular degeneration, age-related macular degeneration (disorder), age-related macular degenerations, age-related maculopathies, age-related maculopathy, amd, amd - age-related macular degeneration, amended, armd, armd - age-related macular degeneration, degeneration, age-related macular, degeneration, macular, degenerations, age-related macular, degenerations, macular, dystrophies, macular, dystrophy, macular, macular degeneration, macular degeneration (disorder), macular degeneration (senile) of retina, unspecified, macular degeneration nos, macular degeneration, age-related, macular degenerations, macular degenerations, age-related, macular dystrophies, macular dystrophy, maculopathies age relat, maculopathies, age related, maculopathies, age-related, maculopathy age relat, maculopathy, age related, maculopathy, age-related, senile macular degeneration, senile macular degeneration of retina, senile macular retinal degeneration, smd - senile macular degeneration, unspecified senile macular degeneration

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    Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.; Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.; Degenerative changes in the macula lutea of the retina.

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  21. Aicardi-Goutieres syndrome cree encephalitis

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    A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  22. Aicardi-Goutieres Syndrome 1 ags1, aicardi-goutieres syndrome 1, cree encephalitis, encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, pseudotoxoplasmosis syndrome

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    A heritable condition, caused by mutation(s) in the TREX1 gene, encoding three-prime repair exonuclease 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.

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  23. Aicardi-Goutieres Syndrome 5 ags5, aicardi-goutieres syndrome 5

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    A genetic condition usually inherited in an autosomal recessive pattern. It is cause by mutation(s) in the SAMHD1 gene, encoding deoxynucleoside triphosphate triphosphohydrolase SAMHD1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF [...]

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  24. Alagille syndrome alagille syndrome, alagille-watson syndrome, arteriohepatic dysplasia, cardiovertebral syndrome, hepatic ductular hypoplasia, hepatofacioneurocardiovertebral syndrome, paucity of interlobular bile ducts, syndromic bile duct paucity, watson alagille syndrome, watson-miller syndrome

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    Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.; This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded [...]

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  25. Alagille Syndrome alagille syndrome, arteriohepatic dysplasia

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    An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.

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  26. Allan-Herndon-Dudley Syndrome allan-herndon-dudley syndrome, mct8-specific thyroid hormone cell membrane transporter deficiency, monocarboxylate transporter 8 deficiency

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    A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.

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  27. alpha thalassemia a-thalassemia, alpha thalassaemia, alpha thalassemia, alpha-thalassemia, thalassemia, alpha-, thalassemias, alpha-

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    Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

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  28. Alpha-1 Antitrypsin Deficiency a-1atd, a1ad, alpha 1-antitrypsin disease, alpha-1 antitrypsin, alpha-1 antitrypsin deficiency, alpha-1-antitrypsin deficiency

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    A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.

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  29. Alpha-1-antitrypsin deficiency alpha-1-proteinase inhibitor deficiency, alpha1-antitrypsin deficiency

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    A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.

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  30. Alport Syndrome alport syndrome, alport's syndrome, hereditary nephritis

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    A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.

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  31. Alport syndrome alport deafness-nephropathy, alport hearing loss-nephropathy

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    A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.

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  32. Alzheimer disease alzheimer disease, late-onset form of familial alzheimer disease

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    A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.; Note that this is a bundled term [...]

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  33. Alzheimer disease ad, alzheimer dementia, alzheimer disease, alzheimer disease, familial, alzheimer's dementia, alzheimer's disease, alzheimers dementia, alzheimers disease, presenile and senile dementia

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    A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.

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  34. Alzheimer disease 3 ad, ad3, alzheimer disease 3, alzheimer disease 3, early onset, alzheimer disease 3, early-onset, alzheimer disease early onset type 3, alzheimer disease familial 3, alzheimer disease type 3, alzheimer disease, familial, 3, alzheimer disease, familial, 3, with spastic paraparesis and apraxia, alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques, alzheimer disease, protection against, due to apoe3-christchurch, alzheimer disease, type 3, alzheimer disease, type 3, with spastic paraparesis and apraxia, alzheimer disease, type 3, with spastic paraparesis and unusual plaques, alzheimer's disease 3, alzheimer's disease type 3, early-onset autosomal dominant alzheimer disease caused by mutation in psen1, familial alzheimer disease, type 3, familial alzheimer's disease, type 3, psen1 early-onset autosomal dominant alzheimer disease

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    Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.

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  35. Alzheimer disease 4 ad4, alzheimer disease 4, alzheimer disease familial type 4, alzheimer disease type 4, alzheimer disease, familial, 4, alzheimer disease, familial4, alzheimer disease-4, alzheimer's disease 4, alzheimer's disease type 4, familial alzheimer disease, type 4, familial alzheimer's disease, type 4

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    Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.

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  36. Alzheimer's disease alzheimer disease, alzheimers dementia

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    A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the [...]

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  37. Alzheimer's Disease alzheimer dementia, alzheimer disease, alzheimer's dementia, alzheimer's disease, alzheimer's disease, unspecified

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    A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.

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  38. amyotrophic lateral sclerosis als, lou gehrig's disease, motor neuron disease, bulbar

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    A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.

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  39. Amyotrophic Lateral Sclerosis als, amyotrophic lateral sclerosis, lou gehrig disease

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    A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements.

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  40. Amyotrophic lateral sclerosis als, charcot disease, lou gehrig disease

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    A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

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  41. Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia als10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia

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    An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43.

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  42. amyotrophic lateral sclerosis type 10 als10, amyotrophic lateral sclerosis 10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia, tardbp-related frontotemporal lobar degeneration with tdp43 inclusions

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    An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.

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  43. Androgen insensitivity syndrome ais, androgen resistance syndrome, goldberg-maxwell syndrome, morris syndrome, testicular feminization syndrome

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    A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).

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  44. anemia anaemia (disease), anemia, anemia (disease)

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    A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of [...]

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  45. Aneuploidy aneuploid, aneuploidy

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    A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24).

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  46. Angelman Syndrome angelman syndrome

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    A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.

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  47. Aniridia aniridia

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    A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.

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  48. Ankylosing Spondylitis ankylosing spondylitis, ankylosing spondylitis of unspecified sites in spine

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    An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.

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  49. ankylosing spondylitis ankylosing spondylarthritides, ankylosing spondylarthritis, ankylosing spondylitis, ankylosing spondyloarthritides, ankylosing spondyloarthritis, bechterew dis, bechterew disease, bechterew's disease, bechterews dis, bechterews disease, bekhterev syndrome, bekhterev's disease, marie struempell dis, marie struempell disease, marie-struempell disease, marie-strumpell disease, rheumatoid spondylitis, spondylarthritides, ankylosing, spondylarthritis ankylopoietica, spondylarthritis, ankylosing, spondylitis, ankylosing, spondylitis, rheumatoid, spondyloarthritides, ankylosing, spondyloarthritis, ankylosing

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    A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.; An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects [...]

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  50. anti-social behavior

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  51. Aortic Dissection aortic dissection, dissection of unspecified site of aorta

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    A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.

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  52. aplastic anemia

    Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.

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  53. Argininosuccinic Aciduria argininosuccinate lyase deficiency, argininosuccinic aciduria

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    A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.

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  54. Arrhythmia arrhythmia, cardiac arrhythmia

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    Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.

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  55. arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic right ventricular dysplasia, arrhythmogenic right ventricular dysplasia/cardiomyopathy, arvc, arvc cardiomyopathy, arvd, right ventricular acm

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    An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  56. arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic right ventricular dysplasia, arrhythmogenic right ventricular dysplasia/cardiomyopathy, arrhythmogenic rvd, arvc, arvc cardiomyopathy, arvd, right ventricular dysplasia

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    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.

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  57. Arrhythmogenic Right Ventricular Dysplasia arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic right ventricular dysplasia, arrhythmogenic rvd, arvd, right ventricular dysplasia

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    A rare genetic disorder characterized by cardiomyopathy affecting the right ventricle. The heart tissue is replaced by fibrous and adipose tissues. It is characterized by ventricular arrhythmia and right ventricular dysfunction. It is a cause of sudden death.

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  58. arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular cardiomyopathy 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5

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    An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.

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  59. arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular cardiomyopathy 5, arrhythmogenic right ventricular cardiomyopathy caused by mutation in tmem43, arrhythmogenic right ventricular dysplasia 5, arrhythmogenic right ventricular dysplasia type 5, arrhythmogenic right ventricular dysplasia, familial, 5, arrhythmogenic right ventricular dysplasia, familial, type 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5, tmem43 arrhythmogenic right ventricular cardiomyopathy

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    Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.

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  60. arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular cardiomyopathy 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9

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    An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.

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  61. arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular cardiomyopathy 9, arrhythmogenic right ventricular dysplasia 9, arrhythmogenic right ventricular dysplasia type 9, arrhythmogenic right ventricular dysplasia, familial, 9, arrhythmogenic right ventricular dysplasia, familial, type 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9, familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in pkp2, pkp2 familial isolated arrhythmogenic right ventricular dysplasia

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    Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.

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  62. Arterial calcification

    Pathological deposition of calcium salts in one or more arteries.; Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, [...]

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  63. Ataxia Telangiectasia Syndrome ataxia telangiectasia, ataxia telangiectasia syndrome, ataxia-telangiectasia, ataxia-telangiectasia syndrome, louis-bar syndrome

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    Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.

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  64. atopic eczema allergic, allergic dermatitis, allergic form of dermatitis, atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic eczema, atopic neurodermatitides, atopic neurodermatitis, besnier's prurigo, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, eczema, atopic, eczema, infantile, eczematous dermatitis, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions

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    A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.

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  65. atrial fibrillation a-fib

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    A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.

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  66. Atrial Fibrillation af, afib, atrial fibrillation

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    A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)

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  67. atrioventricular block av block

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    A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

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  68. Attention Deficit Hyperactivity Disorder adhd, attention deficit hyperactivity disorder, attention deficit-hyperactivity disorder, attention deficit/hyperactivity disorder

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    A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible [...]

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  69. attention deficit hyperactivity disorder addh, adhd, attention deficit dis, attention deficit dis with hyperactivity, attention deficit disorder, attention deficit disorder with hyperactivity, attention deficit disorders, attention deficit disorders with hyperactivity, attention deficit hyperactivity dis, attention deficit hyperactivity disorder, attention deficit hyperactivity disorders, attention deficit-hyperactivity disorder, attention deficit/hyperactivity disorder, brain dysfunction, minimal, deficit disorder, attention, deficit disorders, attention, disorder, attention deficit, disorders, attention deficit, dysfunction, minimal brain, hyperkinetic syndrome, minimal brain dysfunction, syndromes, hyperkinetic

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    A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority [...]

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  70. Auditory Neuropathy Spectrum Disorder ansd, auditory dys-synchrony, auditory neuropathy, auditory neuropathy spectrum disorder

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    A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.

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  71. Autism autism

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    Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and [...]

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  72. Autism autism, autistic disorder

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    A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years.

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  73. autism spectrum disorder

    A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.

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  74. Autism Spectrum Disorder autism spectrum disorder, pervasive developmental disorders

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    A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.

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  75. Autism Spectrum Disorder

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  76. autism spectrum disorder atypical autism, autism spectrum disease, autism spectrum disorder, autism spectrum disorders, autistic spectrum disorder, child development dis pervasive, child development disorders, pervasive, development disorder, pervasive, development disorders, pervasive, disorder, autism spectrum, disorder, pervasive development, disorders, autism spectrum, disorders, pervasive development, pervasive child development dis, pervasive child development disorders, pervasive development disorder, pervasive development disorders, pervasive developmental disorder - not otherwise specified, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

    Show synonyms

    A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.; A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.; Severe [...]

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  77. autosomal dominant cerebellar ataxia spinocerebellar ataxia

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    A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.

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  78. autosomal dominant nonsyndromic deafness 58 autosomal dominant deafness 58, dfna58

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    An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12.

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  79. Autosomal Dominant Optic Atrophy autosomal dominant optic atrophy

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    An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.

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  80. Autosomal dominant optic atrophy plus syndrome doa+, optic atrophy-deafness-polyneuropathy-myopathy syndrome, optic atrophy-hearing loss-polyneuropathy-myopathy syndrome

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    A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.

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  81. autosomal dominant Parkinson disease 1 atypical parkinson disease, autosomal dominant parkinson disease 1, autosomal dominant parkinson disease type 1, autosomal dominant parkinson's disease 1, park1, parkinson disease 1, autosomal dominant, parkinson disease 1, autosomal dominant lewy body

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    Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation

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  82. Autosomal Dominant Polycystic Kidney Disease autosomal dominant polycystic kidney disease

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    Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts.

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  83. Autosomal dominant polycystic kidney disease adpkd, adpkd - autosomal dominant polycystic kidney disease, adult type autosomal dominant polycystic kidney disease, autosomal dominant adult polycystic kidney disease, autosomal dominant polycystic kidney disease, congenital biliary ectasias, polycystic kidney disease, adult type, polycystic kidney disease, adult type (disorder), polycystic kidney disease, autosomal dominant, polycystic kidney, autosomal dominant, polycystic kidneys - adult type

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    Autosomal dominant form of polycystic kidney disease.; Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys.

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  84. Autosomal dominant spastic paraplegia type 10 spg10

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    A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and [...]

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  85. Autosomal Dominant Torsion Dystonia 1 autosomal dominant torsion dystonia 1, dyt1

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    An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck.

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  86. autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile parkinson disease, autosomal recessive juvenile parkinson disease 2, autosomal recessive juvenile parkinson disease type 2, autosomal recessive juvenile parkinson's disease 2, jp, juvenile parkinsonism, park2, parkinson disease 2, parkinson disease 2, autosomal recessive juvenile, parkinson disease autosomal recessive, early onset, parkinson disease, juvenile, autosomal recessive, parkinson disease, juvenile, type 2, parkinsonism, early onset, with diurnal fluctuation, parkinsonism, early-onset, with diurnal fluctuation, pdj, prkn young-onset parkinson disease, young-onset parkinson disease caused by mutation in prkn

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    A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal [...]

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  87. Autosomal recessive malignant osteopetrosis infantile malignant osteopetrosis

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    A rare congenital disorder of bone resorption characterized by generalized skeletal densification.

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  88. autosomal recessive nonsyndromic deafness 12 autosomal recessive deafness 12, dfnb12

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    An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22.

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  89. Autosomal Recessive Osteopetrosis autosomal recessive osteopetrosis, malignant osteopetrosis

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    An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some [...]

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  90. autosomal recessive osteopetrosis 4 infantile malignant osteopetrosis 2, optb4

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    An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.

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  91. autosomal recessive Parkinson disease 14 adult-onset dystonia - parkinsonism, autosomal recessive parkinson disease type 14, autosomal recessive parkinson's disease 14, dystonia-parkinsonism adult-onset, dystonia-parkinsonism, adult-onset, dystonia-parkinsonism, paisan-ruiz type, hereditary late onset parkinson disease caused by mutation in pla2g6, park14, parkinson disease 14, autosomal recessive, pla2g6 hereditary late onset parkinson disease, pla2g6-related dystonia-parkinsonism

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    A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.

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  92. Autosomal Recessive Polycystic Kidney Disease autosomal recessive polycystic kidney, autosomal recessive polycystic kidney disease, polycystic kidney disease, infantile type

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    Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.

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  93. azoospermia

    A male infertility disease characterized by the absence of any measurable level of sperm in semen.

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  94. Bardet-Biedl Syndrome bardet-biedl syndrome, bbs, laurence-moon syndrome, laurence-moon-bardet-biedl syndrome, laurence-moon-biedl syndrome

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    An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.

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  95. Bardet-Biedl syndrome bbs

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    A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

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  96. Barth Syndrome 3-methylglutaconic aciduria type 2, barth syndrome

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    A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.

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  97. Becker muscular dystrophy benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

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    A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.; OMIM mapping confirmed by DO. [SN].

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  98. Becker muscular dystrophy becker dystrophinopathy, becker muscular dystrophy, becker muscular dystrophy, x-linked recessive, becker's muscular dystrophy, benign congenital myopathy, benign pseudohypertrophic muscular dystrophy, bmd, muscular dystrophy pseudohypertrophic progressive, becker type, muscular dystrophy, becker type, muscular dystrophy, pseudohypertrophic progressive, becker type

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    Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

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  99. Becker muscular dystrophy becker dystrophinopathy, bmd

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    A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

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  100. Benign familial infantile epilepsy benign familial infantile convulsions, benign familial infantile seizures, bfie, bfis

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    Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

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  101. bestrophinopathy autosomal recessive bestrophinopathy

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    A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.; OMIM mapping confirmed by DO. [SN].

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  102. beta thalassemia

    A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  103. Beta-propeller protein-associated neurodegeneration bpan, nbia5, neurodegeneration with brain iron accumulation type 5, senda, static encephalopathy of childhood with neurodegeneration in adulthood

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    Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

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  104. Beta-thalassemia

    Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

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  105. Bilateral Frontoparietal Polymicrogyria bfpp, bilateral frontoparietal polymicrogyria

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    An autosomal recessive condition caused by mutation(s) in the ADGRG1 gene, encoding adhesion G-protein coupled receptor G1. It is characterized by motor and cognitive developmental delay, pyramidal signs, and seizures.

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  106. Bilateral striopallidodentate calcinosis bspdc, cerebrovascular ferrocalcinosis, idiopathic basal ganglia calcification, pfbc, primary familial brain calcification

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    Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

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  107. Biotin-thiamine-responsive basal ganglia disease bbgd, biotin-responsive basal ganglia disease, btbgd

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    A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.

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  108. bipolar disorder bipolar affective disorder, bipolar depression, bipolar disorder, bipolar disorder manic phase, depressive-manic psych., mafd, major affective disorder, major bipolar affective disorder, manic bipolar affective disorder, manic bipolar i disorder, manic depression, manic depressive disorder, manic disorder, manic-depression, manic-depressive illness, manic-depressive psychosis, mixed bipolar disorder

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    A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.

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  109. Bipolar Disorder bipolar disorder, bipolar disorder, unspecified, manic depressive disorder, manic-depression

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    A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.

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  110. Birt-Hogg-Dube Syndrome birt-hogg-dube syndrome

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    A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may [...]

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  111. blepharophimosis - intellectual disability syndrome, MKB type blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type, blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, bmrs, maat-kievit-brunner type, bmrs, mkb type, ohdo syndrome, x-linked, ohdo syndrome, x-linked, x-linked recessive, ohdox, x-linked ohdo syndrome

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    The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.

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  112. breast cancer breast cancer, breast tumor, breast tumour, cancer of breast, malignant breast neoplasm, malignant breast tumor, malignant breast tumour, malignant neoplasm of breast, malignant neoplasm of the breast, malignant tumor of breast, malignant tumor of the breast, malignant tumour of breast, malignant tumour of the breast, mammary cancer, mammary neoplasm, mammary tumor, mammary tumour, primary breast cancer

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    A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.

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  113. Breast Carcinoma breast cancer, breast cancer, nos, breast carcinoma, cancer of breast, cancer of the breast, carcinoma of breast, carcinoma of the breast, mammary carcinoma

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    A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by [...]

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  114. Brugada syndrome idiopathic ventricular fibrillation, brugada type

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    A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.

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  115. Brugada syndrome 1 brgda1

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    A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.

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  116. Canavan Disease canavan disease, spongy degeneration of central nervous system

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    A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head.

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  117. cancer malignant neoplasm, malignant tumor, primary cancer

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    A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.; Updating out dated UMLS CUI.

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  118. CARASIL syndrome carasil, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebrovascular disease with thin skin, alopecia, and disc disease, cerebrovascular disease with thin skin, alopecia, and disk disease, maeda syndrome, subcortical vascular encephalopathy, progressive

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    CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

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  119. carbamoyl phosphate synthetase I deficiency disease carbamoyl phosphate synthetase 1 deficiency, carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to, carbamoyl phosphate synthetase deficiency, carbamoyl phosphate synthetase i deficiency disease, carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, carbamoyl-phosphate synthase deficiency disease, carbamoyl-phosphate synthetase 1 deficiency, carbamoyl-phosphate synthetase deficiency, carbamoyl-phosphate synthetase i deficiency, carbamoylphosphate synthetase i deficiency, carbamyl phosphate synthetase (cps) deficiency, cps 1 deficiency, cps i deficiency, cps1 deficiency, cps1d, hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency

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    Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

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  120. cardiac valvular defect

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  121. Cardiomyopathy cardiomyopathy, cardiomyopathy, nos

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    A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.

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  122. Cardiotoxicity cardiac toxicity, cardiotoxicity, toxicity, cardiac

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    Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue.

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  123. cataract cataract, cataract (disease), opacity of the lens

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    Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)

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  124. catecholaminergic polymorphic ventricular tachycardia bidirectional tachycardia induced by catecholamine, catecholamine-induced polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, cpvt, double tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia, malignant paroxysmal ventricular tachycardia, multifocal ventricular premature beats, polymorphic catecholergic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, syncopal paroxysmal tachycardia, ventricular tachycardia, catecholaminergic polymorphic

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    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.

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  125. Catecholaminergic polymorphic ventricular tachycardia bidirectional ventricular tachycardia induced by catecholamine, cpvt, malignant paroxysmal ventricular tachycardia, polymorphic ventricular tachycardia induced by catecholamines

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    A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.

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  126. catecholaminergic polymorphic ventricular tachycardia 2 casq2 catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia 2, catecholaminergic polymorphic ventricular tachycardia caused by mutation in casq2, catecholaminergic polymorphic ventricular tachycardia type 2, cpvt2, cvpt2, ventricular tachycardia, catecholaminergic polymorphic, 2, ventricular tachycardia, catecholaminergic polymorphic, type 2, ventricular tachycardia, stress-induced polymorphic

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    Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.

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  127. caveolinopathy qualitative or quantitative defects of caveolin-3

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    A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals

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  128. CELF2

    CUGBP, Elav-like family member 2

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  129. Celiac disease celiac disease, celiac sprue, coeliac disease, coeliac sprue

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    Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.

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  130. Central core disease

    Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

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  131. Central Hypothyroidism central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency, tsh deficiency

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    Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.

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  132. cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome cabv syndrome, canvas, cerebellar ataxia with bilateral vestibulopathy syndrome, cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

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  133. Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy cadasil, hereditary multi-infarct dementia

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    CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

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  134. Cerebral Cavernous Malformation cerebral cavernous malformation

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    A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.

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  135. cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1, slc6a8 deficiency

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    A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.

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  136. cerebrovascular disease cerebrovascular disorder, cva, stroke

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    An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.; OMIM mapping confirmed by DO. [SN].

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  137. Cernunnos-XLF deficiency cernunnos deficiency, cernunnos xlfd, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, nhej1 deficiency

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    Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

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  138. cervical artery dissection cervical artery dissection

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    A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.; a tear within the wall of any of the [...]

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  139. Charcot-Marie-Tooth Disease charcot-marie-tooth disease, hereditary motor and sensory neuropathy, hereditary sensorimotor neuropathy

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    An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

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  140. Charcot-Marie-Tooth disease type 1 hereditary motor and sensory neuropathy type 1

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    A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.; OMIM mapping confirmed by DO. [SN].

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  141. Charcot-Marie-Tooth disease type 2 hereditary motor and sensory neuropathy guadalajara neuronal type, hereditary motor and sensory neuropathy okinawa type, hereditary motor and sensory neuropathy type 2

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    A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.; See OMIM:604484 Okinawa type is CMT type 2.

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  142. Charcot-Marie-Tooth disease type 4B3 charcot-marie-tooth disease type 4 caused by mutation in sbf1, charcot-marie-tooth disease with focally folded myelin, charcot-marie-tooth disease, type 4b3, cmt4b3, sbf1 charcot-marie-tooth disease type 4

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    Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

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  143. CHARGE Syndrome charge association, charge syndrome, coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association

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    A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.

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  144. childhood acute myeloid leukemia acute myeloid leukaemia (aml), acute myeloid leukaemia of childhood, acute myeloid leukemia (aml), acute myeloid leukemia of childhood, childhood acute granulocytic leukaemia, childhood acute granulocytic leukemia, childhood acute myeloblastic leukaemia, childhood acute myeloblastic leukemia, childhood acute myelocytic leukaemia, childhood acute myelocytic leukemia, childhood acute myelogenous leukaemia, childhood acute myelogenous leukemia, childhood acute myeloid leukaemia, childhood acute myeloid leukemia, childhood aml, paediatric acute myeloblastic leukaemia, paediatric acute myelocytic leukaemia, paediatric acute myelogenous leukaemia, paediatric acute myeloid leukaemia, paediatric aml, pediatric acute myeloblastic leukemia, pediatric acute myelocytic leukemia, pediatric acute myelogenous leukemia, pediatric acute myeloid leukemia, pediatric aml

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    Acute myeloid leukemia occurring in childhood.

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  145. cholestasis bile occlusion, obstruction of bile duct

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    A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.

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  146. Choroideremia choroideremia, progressive choroidal atrophy

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    A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision.

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  147. chromosomal disease

    A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.

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  148. chromosome 16p11.2 deletion syndrome, 220-kb distal 16p11.2 microdeletion syndrome

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    A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.

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  149. chronic granulomatous disease bridges-good syndrome, cgd, chronic septic granulomatosis, congenital dysphagocytosis, granulomatous disease, chronic, quie syndrome

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    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

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  150. chronic intestinal pseudoobstruction chronic intestinal pseudo-obstruction, cipo, intestinal pseudo-obstruction, chronic

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    Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.

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  151. Chronic Lymphocytic Leukemia b cell chronic lymphocytic leukemia, b cell cll, b cell lymphocytic leukemia, b-cell chronic lymphocytic leukemia, b-cell chronic lymphoid leukemia, b-cell cll, b-cell lymphocytic leukemia, bcll, chronic b-cell lymphocytic leukemia, chronic lymphatic leukemia, chronic lymphocytic leukemia, chronic lymphocytic leukemia (cll), chronic lymphocytic leukemia, nos, cll, hematopoeitic - chronic lymphocytic leukemia (cll)

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    The most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid leukemias in the United States. Morphologically, the neoplastic cells are small, round B-lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO, 2001)

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  152. Chronic myeloid leukemia chronic granulocytic leukemia, chronic myelogenous leukemia, cml

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    Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

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  153. Chronic Obstructive Pulmonary Disease chronic obstructive airways disease, chronic obstructive lung disease, chronic obstructive pulmonary disease, chronic obstructive pulmonary disease (copd), chronic obstructive pulmonary disease, unspecified, cold, copd, obstructive lung disease

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    A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of [...]

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  154. Class 3 Obesity class 3 obesity, class iii obesity, extreme obesity, severe obesity, severe_obesity

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    Body mass index (BMI) greater than 40.

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  155. CLN5

    ceroid-lipofuscinosis, neuronal 5

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  156. Clubfoot club foot, clubbed foot, clubfoot, talipes, talipes equinovarus

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    The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.

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  157. Coffin-Siris syndrome coffin-siris syndrome, css, dwarfism-onychodysplasia, fifth digit syndrome, intellectual disability with absent fifth fingernail and terminal phalanx, short stature-onychodysplasia.

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    Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

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  158. Coffin-Siris Syndrome coffin-siris syndrome

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    A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor [...]

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  159. Cognitive Debriefing cognitive debriefing

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    The process of testing an instrument or patient questionnaire with target populations to see if it is understood as intended by the creators of the tool.

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  160. combined oxidative phosphorylation deficiency 23 coxpd23

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    A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.

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  161. cone dystrophy with supernormal rod response cone dystrophy with night blindness and supernormal rod responses kcnv2 related, cone dystrophy with night blindness and supernormal rod responses, kcnv2-related, cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod erg, cone dystrophy with supernormal rod response, cone dystrophy with supernormal rod responses, cone dystrophy with supernormal scotopic electroretinogram, rcd3b, retinal cone dystrophy 3b, retinal cone dystrophy type 3b

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    Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to [...]

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  162. Cone dystrophy with supernormal rod response cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod erg, cone dystrophy with supernormal scotopic electroretinogram

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    Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to [...]

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  163. cone-rod dystrophy cone-rod retinal dystrophy

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    A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  164. Congenital Cataract congenital cataract

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    Cataract that is present at birth.

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  165. congenital central hypoventilation syndrome cchs, central congenital hypoventilation syndrome, congenital central alveolar hypoventilation syndrome, ondine curse, ondine syndrome

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    An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.

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  166. Congenital contractural arachnodactyly beals syndrome, beals-hecht syndrome, cca syndrome, distal arthrogryposis type 9

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    A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

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  167. Congenital Disorder of Deglycosylation cddg, congenital disorder of deglycosylation

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    A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.

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  168. Congenital Heart Disease congenital heart disease

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    A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.

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  169. congenital heart disease abnormalities, heart, abnormality, heart, chd, congenital anomaly of heart, congenital heart defect, congenital heart defects, congenital heart disease, defect, congenital heart, defects, congenital heart, heart abnormalities, heart abnormality, heart defect, heart defect, congenital, heart malformation, heart, malformation of, heart-congenital defect

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    A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.; any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels

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  170. Congenital muscular dystrophy cmd, mdc

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    Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), [...]

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  171. Congenital muscular dystrophy due to LMNA mutation l-cmd, lmna-related congenital muscular dystrophy

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    A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.

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  172. Congenital Myasthenic Syndrome congenital myasthenic syndrome

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    A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis.

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  173. Congenital Myotonic Dystrophy congenital myotonic dystrophy

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    Myotonic dystrophy that is present at birth.

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  174. copper ion binding copper binding, copper/cadmium binding

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    Binding to a copper (Cu) ion.

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  175. Cornelia De Lange Syndrome cornelia de lange syndrome

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    A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.

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  176. Coronary Slow Flow Phenomenon coronary slow flow phenomenon, csfp

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    An angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease.

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  177. corticobasal degeneration disorder cbgd, cortical basal ganglionic degeneration, cortical-basal ganglionic degeneration, cortico-basal ganglionic degeneration (cbgd), corticobasal degeneration, corticobasal syndrome, corticodentatonigral degeneration with neuronal achromasia

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    A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.

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  178. COVID-19 Infection 2019-ncov infection, acute covid-19, acute covid-19 case, covid-19, covid-19 infection, covid-19 virus infection, hcov-19 infection, human coronavirus 2019 infection, sars coronavirus 2 infection, sars-2 infection, sars-cov-2 disease, sars-cov-2 infection, sars-cov2 disease, sars-cov2 infection, sars2 infection, severe acute respiratory syndrome coronavirus 2 infection

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    An acute infection of the respiratory tract that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Based on currently available information, SARS-CoV-2 is thought to mainly spread from person to person through respiratory droplets. Typically, there is a two- to 14-day incubation period and infected persons can present with no symptoms or mild to severe fever, dry cough, fatigue, and difficulty breathing. Dysgeusia, [...]

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  179. Crigler-Najjar syndrome bilirubin udp glucuronyl transferase deficiency, crigler najjar syndrome, crigler-najjar syndrome, type i

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    A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).; OMIM mapping confirmed by DO. [SN].

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  180. CSTB wt Allele cpi-b, cst6, cstb wt allele, cystatin b (stefin b) gene, cystatin b wt allele, epm1, epm1a, pme, stfb, uld

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    Human CSTB wild-type allele is located in the vicinity of 21q22.3 and is approximately 4 kb in length. This allele, which encodes cystatin-B protein, plays a role in thiol protease inhibition. Mutation of the gene is associated with progressive myoclonic epilepsy 1A (myoclonic epilepsy of Unverricht and Lundborg).

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  181. CTNNB1 Gene Mutation beta catenin gene mutation, beta-catenin gene mutation, cadherin-associated protein, beta 1 (88kd) gene mutation, cadherin-associated protein, beta gene mutation, catenin beta 1 gene mutation, catenin beta-1 gene mutation, ctnnb gene mutation, ctnnb1 gene mutation, ctnnb1 mutation, positive

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    A change in the nucleotide sequence of the CTNNB1 gene.

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  182. Cystic Fibrosis cystic fibrosis

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    A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, [...]

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  183. Cystic fibrosis cf, mucoviscidosis

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    A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.

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  184. cytochrome-c oxidase deficiency disease complex 4 mitochondrial respiratory chain deficiency, complex iv deficiency, cox deficiency, cytochrome c oxidase deficiency, cytochrome-c oxidase deficiency, cytochrome-c oxidase deficiency disease, deficiency of mitochondrial respiratory chain complex4, isolated cox deficiency, isolated cytochrome c oxidase deficiency, isolated mitochondrial respiratory chain complex iv deficiency, mitochondrial complex 4 deficiency, mitochondrial complex iv deficiency, mitochondrial complex iv deficiency, nuclear type 1

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    A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

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  185. Danon disease antopol disease, pseudoglycogenosis ii

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    A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.; OMIM mapping confirmed by DO. [SN].

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  186. Deafness, Autosomal Recessive 1A deafness, autosomal recessive 1a, dfnb1a

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    An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

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  187. Dent Disease dent disease, x-linked recessive hypophosphatemic rickets

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    An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.

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  188. Dentatorubral pallidoluysian atrophy dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

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    A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.

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  189. Depression depression, depressive disorder, depressive episode, depressivity

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    Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.

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  190. Desminopathy desmin-related myofibrillar myopathy

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    A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving [...]

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  191. developmental and epileptic encephalopathy

    An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.

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  192. Developmental and Epileptic Encephalopathy developmental and epileptic encephalopathy, early infantile epileptic encephalopathy, eiee

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    A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction.

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  193. developmental and epileptic encephalopathy 31A dee31, dee31a, developmental and epileptic encephalopathy 31, early infantile epileptic encephalopathy 31

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    A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.

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  194. developmental and epileptic encephalopathy, 26 dee26, developmental and epileptic encephalopathy 26, early infantile epileptic encephalopathy 26, early infantile epileptic encephalopathy caused by mutation in kcnb1, eiee26, epileptic encephalopathy, early infantile, 26, epileptic encephalopathy, early infantile, type 26, kcnb1 early infantile epileptic encephalopathy

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    Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.

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  195. developmental and epileptic encephalopathy, 28 dee28, developmental and epileptic encephalopathy 28, early infantile epileptic encephalopathy caused by mutation in wwox, eiee28, epileptic encephalopathy, early infantile, 28, epileptic encephalopathy, early infantile, type 28, woree syndrome, wwox early infantile epileptic encephalopathy, wwox-related epileptic encephalopathy

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    Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.

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  196. developmental and epileptic encephalopathy, 46 dee46, developmental and epileptic encephalopathy 46, early infantile epileptic encephalopathy caused by mutation in grin2d, eiee46, epileptic encephalopathy, early infantile, 46, epileptic encephalopathy, early infantile, 46; eiee46, epileptic encephalopathy, early infantile, type 46, grin2d early infantile epileptic encephalopathy

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    Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.

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  197. Developmental Delay delayed developmental milestones, developmental delay

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    Failure to meet, or late achievement of developmental milestones.

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  198. Diabetes Mellitus diabetes, diabetes mellitus, dm

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    A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

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  199. diabetes mellitus diabetes, diabetes mellitus, diabetes mellitus (disease), diabetes mellitus (disorder), diabetes mellitus, nos, diabetes nos, dm, dm - diabetes mellitus

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    A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.; A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

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  200. Diabetic Nephropathy diabetic kidney disease, diabetic nephropathy

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    Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.

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  201. diabetic retinopathy retinal abnormality - diabetes-related

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    A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.

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  202. Diamond-Blackfan anemia aase syndrome, aase-smith ii syndrome, anaemia congenital erythroid hypoplastic, anaemia diamond blackfan type, anemia congenital erythroid hypoplastic, anemia diamond blackfan type, aregenerative anaemia chronic congenital, aregenerative anemia chronic congenital, bds, blackfan - diamond syndrome, blackfan diamond syndrome, blackfan-diamond anaemia, blackfan-diamond anemia, chronic constitutional pure red cell anaemia, chronic constitutional pure red cell anemia, congenital hypoplastic anaemia, congenital hypoplastic anemia, congenital hypoplastic anemia, blackfan-diamond type, congenital prca, congenital pure red cell aplasia, dba, diamond-blackfan anemia, erythrogenesis imperfecta, inherited erythroblastopenia, red cell aplasia, pure hereditary

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    A congenital aregenerative and often macrocytic anemia with erythroblastopenia.

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  203. Diamond-Blackfan anemia 1 aase syndrome, aase-smith syndrome 2, anemia, congenital erythroid hypoplastic, anemia, congenital hypoplastic, of blackfan and diamond, aregenerative anemia, chronic congenital, blackfan-diamond syndrome, dba, dba1, diamond-blackfan anaemia caused by mutation in rps19, diamond-blackfan anaemia type 1, diamond-blackfan anemia 1, diamond-blackfan anemia caused by mutation in rps19, diamond-blackfan anemia type 1, erythrogenesis imperfecta, red cell aplasia, pure, hereditary, rps19 diamond-blackfan anaemia, rps19 diamond-blackfan anemia

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    Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.

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  204. dilated cardiomyopathy congestive cardiomyopathy, dilated cardiomyopathy, familial dilated cardiomyopathy, idiopathic dilation cardiomyopathy, primary dilated cardiomyopathy

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    Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.

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  205. Dilated Cardiomyopathy congestive cardiomyopathy, dilated cardiomyopathy

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    Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.

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  206. dilated cardiomyopathy cardiomyopathies, congestive, cardiomyopathies, dilated, cardiomyopathies, familial idiopathic, cardiomyopathy, congestive, cardiomyopathy, dilated, cardiomyopathy, dilated, cmd1a, cardiomyopathy, dilated, lmna, cardiomyopathy, dilated, with conduction deffect1, cardiomyopathy, familial idiopathic, ccm - congestive cardiomyopathy, cocm - congestive cardiomyopathy, congestive cardiomyopathies, congestive cardiomyopathy, congestive cardiomyopathy (disorder), congestive dilated cardiomyopathy, dcm, dcm - dilated cardiomyopathy, dilated cardiomyopathies, dilated cardiomyopathy, familial dilated cardiomyopathy, familial idiopathic cardiomyopathies, familial idiopathic cardiomyopathy, idiopathic cardiomyopathies, familial, idiopathic cardiomyopathy, familial, idiopathic dilation cardiomyopathy, primary dilated cardiomyopathy, primary dilated cardiomyopathy (disorder)

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    A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.; An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.; Cardiomyopathy which is characterized by [...]

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  207. dilated cardiomyopathy 1HH bag3 familial isolated dilated cardiomyopathy, cardiomyopathy, dilated, 1hh, cardiomyopathy, dilated, type 1hh, cmd1hh, dilated cardiomyopathy type 1hh, familial isolated dilated cardiomyopathy caused by mutation in bag3

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    Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.

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  208. dilated cardiomyopathy 1II cardiomyopathy, dilated, 1ii, cardiomyopathy, dilated, type 1ii, cmd1ii, cryab familial isolated dilated cardiomyopathy, dilated cardiomyopathy type 1ii, familial isolated dilated cardiomyopathy caused by mutation in cryab

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    Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.

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  209. Dilated cardiomyopathy with ataxia 3-methylglutaconic aciduria type 5, dcma syndrome, mga5

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    Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

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    Associated cell lines:
  210. Distal Renal Tubular Acidosis distal renal tubular acidosis

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    Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis.

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  211. Donnai-Barrow syndrome dbs/foar syndrome, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome, facio-oculo-acoustico-renal syndrome, foar syndrome, holmes-schepens syndrome, syndrome of ocular and facial anomalies, telecanthus and deafness, syndrome of ocular and facial anomalies, telecanthus and hearing loss

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    A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

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    Associated cell lines:
  212. Down syndrome complete trisomy 21 syndrome, down's syndrome, down's syndrome - trisomy 21, downs syndrome, g trisomy, trisomy 21 syndrome

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    A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.; OMIM mapping confirmed by DO. [SN].

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    Associated cell lines:
  213. Down Syndrome down syndrome, down's syndrome, trisomy 21, trisomy 21 (down syndrome), trisomy 21 syndrome

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    A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic [...]

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    Associated cell lines:
  214. Down syndrome complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, down syndrome chromosome region, down syndrome critical region, down syndrome, isolated cases, down syndrome, partial trisomy 21, down's syndrome, down's syndrome - trisomy 21, down's syndrome nos, down's syndrome nos (disorder), downs syndrome, g trisomy, leukemia, megakaryoblastic, of down syndrome, leukemia, megakaryoblastic, with or without down syndrome, somatic, mongolism, partial trisomy 21 down syndrome, syndrome, down, syndrome, down's, t21 - trisomy 21, transient myeloproliferative disorder of down syndrome, trisomy 21, trisomy 21 (down syndrome), trisomy 21 (down syndrome)downs syndrometrisomy 21 syndrome, trisomy 21 nos, trisomy 21 syndrome, trisomy 21, meiotic nondisjunction, trisomy 21, mitotic nondisjunction

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    A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include intellectual disability, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, [...]

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  215. Doyne honeycomb retinal dystrophy dhd, dhrd, dominant drusen, dominant radial drusen, doyne honeycomb degeneration of retina, doyne honeycomb retinal dystrophy, drusen, radial, autosomal dominant, familial drusen, malattia leventinese

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    Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD [...]

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    Associated cell lines:
  216. Dravet Syndrome dravet syndrome, severe myoclonic epilepsy of infancy, smei

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    A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills.

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  217. Dravet syndrome severe myoclonic epilepsy of infancy, severe myoclonus epilepsy of infancy, smei

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    A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.

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  218. drug-induced liver injury drug induced hepatotoxicity, drug-induced disorder of liver, drug-induced liver disease, drug-induced liver injury, hepatitis, drug-induced, hepatitis, toxic, liver injury, drug-induced, toxic hepatitis

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    A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.; A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.

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  219. Dry Eye Syndrome dry eye, dry eye syndrome, dry eye(s), keratoconjunctivitis sicca

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    A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.

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  220. Duchenne muscular dystrophy muscular dystrophy, duchenne

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    A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.; OMIM mapping confirmed by DO. [SN].

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  221. Duchenne muscular dystrophy dmd, duchenne muscular dystrophy, duchenne muscular dystrophy, x-linked recessive, muscular dystrophy, duchenne, muscular dystrophy, duchenne type, muscular dystrophy, pseudohypertrophic progressive, duchenne type, severe dystrophinopathy, duchenne type

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    Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

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    Associated cell lines:
  222. Duchenne Muscular Dystrophy duchenne, duchenne muscular dystrophy

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    An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

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  223. Duchenne muscular dystrophy dmd, severe dystrophinopathy, duchenne type

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    A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

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  224. DYRK1A-related intellectual disability syndrome dyrk1a syndrome

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    A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short [...]

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    Associated cell lines:
  225. Dyskeratosis Congenita dkc, dyskeratosis congenita, zinsser-engman-cole syndrome

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    A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.

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  226. dyskinesia with orofacial involvement

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  227. Early infantile epileptic encephalopathy early infantile epileptic encephalopathy with suppression-bursts, eiee, ohtahara syndrome

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    A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

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  228. Ehlers-Danlos Syndrome ehlers-danlos syndrome

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    An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.

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    Associated cell lines:
  229. Emery-Dreifuss muscular dystrophy edmd

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    A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  230. Emery-Dreifuss Muscular Dystrophy edmd, emery-dreifuss muscular dystrophy

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    An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.

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  231. endocrine gland cancer endocrine neoplasm, endocrine tumor, malignant endocrine tumor, malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland, neoplasm of endocrine system

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    An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.

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  232. Epidermodysplasia Verruciformis epidermodysplasia verruciformis, ev, lewandowsky-lutz dysplasia

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    An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and [...]

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  233. Epidermolysis Bullosa epidermolysis bullosa

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    An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.

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  234. Epidermolysis Bullosa Dystrophica epidermolysis bullosa dystrophica

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    A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.

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  235. Epidermolysis Bullosa Dystrophica, Autosomal Recessive epidermolysis bullosa dystrophica, autosomal recessive, rdeb, recessive dystrophic epidermolysis bullosa

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    An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.

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  236. epidermolysis bullosa simplex

    An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.

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  237. Epidermolysis Bullosa Simplex epidermolysis bullosa simplex

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    A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.

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    Associated cell lines:
  238. epidermolysis bullosa simplex 2F, with mottled pigmentation ebs with mottled pigmentation, ebs-mp, ebsmp, epidermolysis bullosa simplex 2f, with mottled pigmentation, epidermolysis bullosa simplex with mottled pigmentation, speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering, speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering

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    A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.

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  239. epilepsy ef - epileptic fit, ep - epilepsy, epilectic attack, nos, epilep nec w/o intr epil, epilep nos w/o intr epil, epilepsy, epilepsy (disorder), epilepsy and recurrent seizures, epilepsy nec w intr epil, epilepsy nos, epilepsy nos (disorder), epilepsy nos w intr epil, epilepsy, nos, epilepsy, unspecified, epilepsy, unspecified, with intractable epilepsy, epilepsy, unspecified, without mention of intractable epilepsy, epileptic, epileptic attack, epileptic attack, nos, epileptic convulsions, epileptic convulsions, nos, epileptic disorder, epileptic disorder, nos, epileptic fit, epileptic fits, epileptic fits, nos, epileptic seizure, epileptic seizure (finding), epileptic seizures, epileptic seizures, nos, generalised convulsion, generalised fit, generalised seizure, generalized convulsion, generalized fit, generalized seizure, generalized seizure (finding), other forms of epilepsy, other forms of epilepsy (disorder), other forms of epilepsy and recurrent seizures, other forms of epilepsy nos, other forms of epilepsy nos (disorder), other forms of epilepsy, with intractable epilepsy, other forms of epilepsy, without mention of intractable epilepsy, seizure disorder, seizure disorder (disorder), [x]other epilepsy, [x]other epilepsy (disorder)

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    A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.; A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems [...]

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  240. Epileptic encephalopathy convulsive encephalopathy

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    A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.; Seizures alone without any underlying [...]

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  241. Ewing Sarcoma es, ewing sarcoma, ewing tumor, ewing's sarcoma, ewing's tumor

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    A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.

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  242. Fabry disease alpha galactosidase deficiency, alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, deficiency of melibiase, fabry's disease

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    A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.; OMIM mapping confirmed by DO. [SN].

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  243. Fabry Disease alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

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    A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.

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  244. Facioscapulohumeral dystrophy facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy, fsh dystrophy, fshd, landouzy-dejerine dystrophy, landouzy-dejerine myopathy

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    A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

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  245. facioscapulohumeral muscular dystrophy landouzy dejerine muscular dystrophy, landouzy-dejerine muscular dystrophy, muscular dystrophy, landouzy-dejerine

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    OMIM mapping confirmed by DO. [SN].

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  246. facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 1b, facioscapulohumeral muscular dystrophy type 2, fshd2

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    A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.

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  247. factor VIII deficiency classic hemophilia a, congenital factor viii disorder, hemophilia a, subhemophilia

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    A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.; OMIM mapping confirmed by DO. [SN].

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  248. familial adenomatous polyposis adenomatous polyposis of the colon

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    An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.; OMIM mapping confirmed by DO. [SN].

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  249. Familial Dysautonomia familial dysautonomia, hereditary sensory and autonomic neuropathy type iii, hsan 3, hsan iii, neuropathy, hereditary sensory and autonomic, type iii, riley- day, riley-day syndrome

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    A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.

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  250. familial hemiplegic migraine 3 fhm3, mhp3

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    A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.

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  251. familial hypercholesterolemia familial hyperbetalipoproteinaemia, familial hypercholesteremia, fredrickson type iia hyperlipoproteinemia, fredrickson type iia lipidaemia, hyperbetalipoproteinemia, type ii hyperlipidemia

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    A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  252. familial hypercholesterolemia familial hyperbetalipoproteinaemia, familial hypercholesteremia, familial hypercholesterolaemia, familial hypercholesterolemia, fredrickson type iia hyperlipoproteinemia, fredrickson type iia lipidaemia, hyperbetalipoproteinemia, hyperlipoproteinemia type ii, type ii hyperlipidemia

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    An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.; Familial hypercholesterolaemia is an autosomal inherited disorder characterized by markedly elevated LDL-cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease; Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM); Editor [...]

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  253. familial long QT syndrome congenital long qt syndrome, familial long qt syndrome, hereditary long qt syndrome, lqts, romano-ward long qt syndrome, romano-ward syndrome, ward-romano syndrome

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    A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.

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  254. Familial long QT syndrome congenital long qt syndrome, lqts

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    A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.

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  255. familial mediterranean fever benign paroxysmal peritonitis

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    An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  256. familial partial lipodystrophy type 2 familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy dunnigan type, fpld2, reverse partial lipodystrophy

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    A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.

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  257. Familial platelet disorder with associated myeloid malignancy familial platelet disorder with predisposition to acute myelogenous leukemia, familial platelet disorder with predisposition to myeloid malignancy, familial platelet disorder with propensity to acute myeloid leukemia, familial thrombocytopenia with propensity to acute myelogenous leukemia, fpd/aml, fpdmm, fps/aml

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    A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

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  258. Familial progressive cardiac conduction defect familial lenègre disease, familial lev disease, familial lev-lenègre disease, familial pccd, familial progressive heart block, hereditary bundle branch defect

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    A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

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  259. familial thoracic aortic aneurysm and aortic dissection annuloaortic ectasia, cystic medial necrosis of aorta, erdheim cystic medial necrosis of aorta, erdheim disease, familial aortic aneurysm, familial aortic dissection, familial taad, familial thoracic aortic aneurysm, familial thoracic aortic aneurysm and aortic dissection, familial thoracic aortic aneurysm and dissection, ftaad

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    A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, [...]

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  260. Fanconi anemia fanconi pancytopenia

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    A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

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  261. Fanconi-Bickel syndrome glycogen storage disease due to glut2 deficiency, glycogenosis due to glut2 deficiency, gsd due to glut2 deficiency

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    A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.

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  262. fetal and neonatal alloimmune thrombocytopenia nait

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    Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are [...]

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  263. FG syndrome keller syndrome, opitz-kaveggia syndrome

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    A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  264. fibrodysplasia ossificans progressiva myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, stone man syndrome

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    A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.; OMIM mapping confirmed by DO. [SN].

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  265. Fibrodysplasia Ossificans Progressiva fibrodysplasia ossificans progressiva, myositis ossificans progressiva

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    A condition in which there is progressive heterotopic bone formation of the tendons and muscles.

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  266. Fibrodysplasia ossificans progressiva fop, myositis ossificans progressiva, stone man syndrome

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    Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

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  267. fibromuscular dysplasia fibromuscular dysplasia, fibromuscular dysplasia (morphologic abnormality), fibromuscular dysplasia of arteries, fibromuscular hyperplasia of arteries nos (disorder), fibromuscular hyperplasia of artery, fibromuscular hyperplasia of artery (disorder), fibromuscular hyperplasia of artery [ambiguous], fmda

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    A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.; An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH [...]

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  268. Fibronectin glomerulopathy gfnd, glomerulopathy with fibronectin deposits

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    A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.

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  269. Floating-Harbor syndrome flhs

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    A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2.

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  270. Floating-Harbor syndrome fhs, flhs, floating-harbor syndrome, pelletier-leisti syndrome, short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes

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    Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

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  271. Focal Segmental Glomerulosclerosis focal segmental glomerulosclerosis, fsgs, fsgs - focal segmental glomerulosclerosis

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    A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.

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  272. focal segmental glomerulosclerosis fgs, fgs (focal glomerular sclerosis), focal glomerular sclerosis, focal glomerulosclerosis, focal segmental glomerulosclerosis, fsgs, fsgs - focal segmental glomerulosclerosis, glomerulonephritis, focal sclerosing, glomerulosclerosis, glomerulosclerosis, focal, glomerulosclerosis, focal segmental

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    A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.; A renal disorder characterized by sclerotic [...]

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  273. focal segmental glomerulosclerosis 7 fsgs7

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    A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.

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  274. Fontan Procedure

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  275. Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome fhonda syndrome

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    A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and [...]

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    Associated cell lines:
  276. FOXG1 syndrome foxg1-related epileptic-dyskinetic encephalopathy

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    A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a [...]

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  277. Fragile X Syndrome fragile x syndrome

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    A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.

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  278. Fragile X syndrome frax syndrome, fraxa syndrome, fxs, martin-bell syndrome

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    A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.

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  279. Friedreich Ataxia friedreich ataxia, friedreich's ataxia

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    An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.

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  280. Frontotemporal Dementia frontotemporal dementia

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    A syndrome caused by progressive degeneration of the frontal or temporal lobes of the brain. It is manifested with personality changes and deterioration of the language skills.

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  281. Frontotemporal dementia ftd

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    Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).

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  282. Gabriele-de Vries syndrome yy1 haploinsufficiency syndrome

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    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint [...]

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  283. Gastritis gastritis

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    Inflammation of the stomach.

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  284. Gaucher disease acid beta-glucosidase deficiency, glucocerebrosidase deficiency

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    Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

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  285. Gaucher disease type 1 non-cerebral juvenile gaucher disease

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    Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

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  286. Gaucher disease type 3 cerebral juvenile and adult form of gaucher disease, chronic neuronopathic gaucher disease, gaucher disease, subacute neuronopathic type

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    Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

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  287. Generalized Anxiety Disorder - 7 Questionnaire gad-7, gad01, general anxiety disorder-7, general anxiety disorder-7 questionnaire, generalized anxiety disorder - 7 questionnaire, generalized anxiety disorder 7-item scale (gad-7)

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    A seven item validated, self-reported questionnaire for screening, and assessing the severity of generalized anxiety disorder in clinical practice and research settings.

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  288. Generalized Epilepsy generalized epilepsy

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    A chronic condition characterized by recurrent generalized seizures.

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  289. Gitelman Syndrome gitelman syndrome

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    An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.

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  290. Glomerulopathy glomerulopathy

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    Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins.

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  291. Glucose-6-Phosphate Dehydrogenase Deficiency g-6-pd variant enzyme deficiency anemia, g6pd, g6pd deficiency, glucose-6-phosphate dehydrogenase deficiency

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    An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.

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  292. glycogen storage disease glycogenoses, glycogenosis

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    A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

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  293. glycogen storage disease due to acid maltase deficiency, infantile onset alpha-1,4-glucosidase acid deficiency, infantile onset, glycogen storage disease type 2, infantile onset, glycogen storage disease type ii, infantile onset, glycogenosis due to acid maltase deficiency, infantile onset, glycogenosis type 2, infantile onset, glycogenosis type ii, infantile onset, gsd due to acid maltase deficiency, infantile onset, gsd type 2, infantile onset, gsd type ii, infantile onset, pompe disease, infantile onset

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    Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

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  294. glycogen storage disease due to acid maltase deficiency, late-onset alpha-1,4-glucosidase acid deficiency, late onset, alpha-1,4-glucosidase acid deficiency, late-onset, glycogen storage disease type 2, late onset, glycogen storage disease type 2, late-onset, glycogen storage disease type ii, late onset, glycogen storage disease type ii, late-onset, glycogenosis type 2, late onset, glycogenosis type 2, late-onset, glycogenosis type ii, late onset, glycogenosis type ii, late-onset, gsd due to acid maltase deficiency, late onset, gsd due to acid maltase deficiency, late-onset, gsd type 2, late onset, gsd type 2, late-onset, gsd type ii, late onset, gsd type ii, late-onset, pompe disease, late onset, pompe disease, late-onset

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    Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.

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  295. glycogen storage disease I deficiency of glucose-6-phosphatase, g6p deficiency, glycogen storage disease due to g6p deficiency, glycogen storage disease due to glucose-6-phosphatase deficiency, glycogen storage disease i, glycogen storage disease type 1, glycogen storage disease type i, glycogen storage disease, type i, glycogenosis type 1, glycogenosis type i, gsd due to g6p deficiency, gsd type 1, gsd type i, gsd1, hepatorenal glycogenosis, von gierke disease, von gierke's disease

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    Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

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  296. Glycogen Storage Disease Type III glycogen storage disease type iii

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    An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.

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  297. GNB5-related intellectual disability-cardiac arrhythmia syndrome

    A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.

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  298. Gordon Holmes syndrome cahh, cerebellar ataxia-hypogonadism syndrome, gdhs, lhrh deficiency and ataxia, luteinizing hormone-releasing hormone deficiency with ataxia

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    An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.

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  299. Gyrate atrophy of choroid and retina hoga, hyperornithinemia, hyperornithinemia-gyrate atrophy of choroid and retina syndrome, ornithine aminotransferase deficiency

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    Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

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  300. Haploinsufficiency

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  301. Healthy healthy, well

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    Having no significant health-related issues.

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  302. Healthy Subject healthy subject, healthy volunteer

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    An individual who is or becomes a participant in a research study and has no significant health-related issues.

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  303. Hearing Loss hearing loss

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    A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.

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  304. heart disease cardiac dis, cardiac disease, cardiac diseases, disease of heart, disease or disorder of heart, disease, cardiac, disease, heart, diseases, cardiac, diseases, heart, disorder of heart, disorder of heart/pericardium, heart dis, heart disease, heart disease or disorder, heart diseases, heart disorder, heart trouble, heart/pericardial disease, heart/pericardial disease or disorder, heart/pericardial disorder, heart/pericardial trouble

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    A disease involving the heart and/or pericardium.; Pathological conditions involving the HEART including its structural and functional abnormalities.

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  305. Heart Failure cardiac failure, heart failure, heart failure, unspecified, hf

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    Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.

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  306. Heart Failure

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  307. hematologic disease blood disease, blood disorder, blood dyscrasia, disease of haematopoietic system, disease of hematopoietic system, disease of the blood and blood-forming organs, disease or disorder of haematopoietic system, disease or disorder of hematopoietic system, disorder of haematopoietic system, disorder of hematopoietic system, haematological disease, haematological disorder, haematological disorders and malignancies, haematological system disease, haematological system disorder, haematopoietic disease, haematopoietic system disease, haematopoietic system disease or disorder, hematologic and lymphocytic disorder, hematologic disease, hematologic diseases, hematologic disorder, hematological disease, hematological disorder, hematological disorders and malignancies, hematological system disease, hematological system disorder, hematopoietic disease, hematopoietic system disease, hematopoietic system disease or disorder, rare hematologic disease

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    A disease involving the hematopoietic system.; Disorders of the blood and blood forming tissues.; placeholder for lymphoid disease

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  308. Hemophilia A congenital f8 deficiency, congenital factor viii deficiency, congenital fviii deficiency

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    A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

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  309. Hemophilia B christmas disease, factor ix deficiency, hemophilia b, hereditary factor ix deficiency, hereditary factor ix deficiency disease

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    An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.

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  310. Hepatic Steatosis fatty (change of) liver, not elsewhere classified, fatty liver change, hepatic steatosis, liver steatosis

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    A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma.

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  311. Hepatitis C Infection hcv infection, hepatitis c, hepatitis c infection, hepatitis c virus infection, nanbh, non-a, non-b hepatitis

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    A viral infection caused by the hepatitis C virus.

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  312. Hepatocellular Carcinoma carcinoma of liver cells, carcinoma of the liver cells, carcinoma, hepatocellular, malignant, hcc, hepatocellular cancer, hepatocellular carcinoma, hepatoma, lihc, liver cell cancer (hepatocellular carcinoma), liver cell carcinoma, primary carcinoma of liver cells, primary carcinoma of the liver cells

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    A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic [...]

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  313. Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes hepatocyte nuclear factor 1-alpha-associated monogenic diabetes, hnf1a-associated monogenic diabetes, maturity-onset diabetes of the young, type 3, mody3

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    Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.

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  314. Hepatolenticular Degeneration hepatolenticular degeneration, wilson disease, wilson's disease

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    A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.

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  315. hereditary antithrombin deficiency antithrombin 3 deficiency, antithrombin iii deficiency, at iii deficiency, at3d, congenital antithrombin iii deficiency, congenital at-iii deficiency, hereditary antithrombin deficiency, hereditary thrombophilia due to congenital antithrombin 3 deficiency, hereditary thrombophilia due to congenital antithrombin deficiency, inherited antithrombin deficiency, thrombophilia 7 due to antithrombin iii deficiency, thrombophilia due to antithrombin 3 deficiency, thrombophilia due to antithrombin iii deficiency

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    A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).

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  316. Hereditary ataxia

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  317. Hereditary Fructose Intolerance fructose intolerance, fructose-1,6-bisphosphate aldolase b deficiency, hereditary fructose intolerance

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    A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.

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  318. Hereditary Hemorrhagic Telangiectasia hereditary hemorrhagic telangiectasia, osler-weber-rendu disease, telangiectasia, hereditary hemorrahagic, of rendu, osler

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    An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.

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  319. hereditary multiple exostoses hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple congenital exostosis, multiple exostosis syndromes, multiple ostechondromas, osteochondromatosis syndrome

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    An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.; OMIM mapping confirmed by DO. [SN].

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  320. Hereditary Retinal Dystrophy hereditary retinal dystrophy

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    An inherited form of retinal dystrophy.

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  321. Hereditary Spastic Paraplegia hereditary spastic paraplegia

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    Spastic paraplegia that is transmitted from parent to child.

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  322. Hereditary spastic paraplegia familial spastic paraplegia, hereditary spastic paraparesis, hsp, spg, strümpell-lorrain disease

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    A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.

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  323. hereditary spastic paraplegia 31 autosomal dominant spastic paraplegia 31, autosomal dominant spastic paraplegia type 31, spg31

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    A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.

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  324. hereditary spastic paraplegia 56 autosomal recessive spastic paraplegia 56, autosomal recessive spastic paraplegia type 56, cyp2u1 hereditary spastic paraplegia, hereditary spastic paraplegia caused by mutation in cyp2u1, hereditary spastic paraplegia type 56, spastic paraplegia 56, autosomal recessive, spg56

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    Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.

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  325. Herpes Simplex Encephalitis herpes simplex encephalitis

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    A serious viral disorder characterized by infection of the brain by herpes simplex virus type 1 or 2. Herpes simplex virus type 1 affects adults, whereas herpes simplex virus type 2 affects newborns. Signs and symptoms include fever, headaches, vomiting, seizures and psychiatric manifestations.

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  326. Holt-Oram Syndrome holt-oram syndrome

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    A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.

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  327. Huntington Disease

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  328. Huntington disease huntington chorea

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    Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

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  329. Huntington's disease hd, huntington disease, huntington's chorea

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    A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.

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  330. Huntington's Disease hd, huntington disease, huntington's chorea, huntington's disease

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    A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.

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  331. Hutchinson-Gilford progeria syndrome hgps, progeria

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    Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and [...]

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  332. Hypercholesterolemia cholesterol high, high cholesterol, hypercholesterolemia

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    A laboratory test result indicating an increased amount of cholesterol in the blood.

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  333. hyperinsulinemic hypoglycemia hyperinsulinemia hypoglycemia, hyperinsulinemic hypoglycemia, hyperinsulinemic hypoglycemia (disease), islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy

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    A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.; An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene [...]

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  334. Hyperlipoproteinemia hyperlipoproteinemia

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    An elevated concentration of lipoproteins.

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  335. hyperlipoproteinemia type IV endogenous hyperlipidaemia, familial hypertriglyceridemia, fredrickson type iv hyperlipoproteinemia, fredrickson type iv lipidaemia, fredrickson type iv lipidemia, vldl hyperlipoproteinemia

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    OMIM mapping confirmed by DO. [SN].

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  336. Hyperlipoproteinemia, Type IIa familial hypercholesterolemia, fh, hyperlipidemia type iia, hyperlipoproteinemia, type iia, type iia hyperlipidemia

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    An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.

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  337. hyperparathyroidism hyperparathyroidism

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    Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary.; Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and [...]

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  338. Hypertension high blood pressure, high blood pressure/ hypertension, htn, hypertension, vascular hypertensive disorder

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    Blood pressure that is abnormally high.

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  339. Hypertrophic cardiomyopathy cardiomyopathy, hypertrophic, enlarged and thickened heart muscle, hcm

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    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.

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  340. Hypertrophic Cardiomyopathy hypertrophic cardiomyopathy

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    A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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  341. hypertrophic cardiomyopathy asymmetric septal hypertrophies, asymmetric septal hypertrophy, cardiomyopathies, hypertrophic, cardiomyopathies, hypertrophic obstructive, cardiomyopathy, hypertrophic, cardiomyopathy, hypertrophic obstructive, familial hypertrophic cardiomyopathy, hcm, hcm - hypertrophic cardiomyopathy, hocm - hypertrophic obstructive cardiomyopathy, hyper. obst. cardiomyopathy, hypertr obstr cardiomyop, hypertrophic cardiomyopathies, hypertrophic cardiomyopathy, hypertrophic cardiomyopathy (disorder), hypertrophic myocardiopathy, hypertrophic obstructive cardiomyopathies, hypertrophic obstructive cardiomyopathy, hypertrophic obstructive cardiomyopathy (disorder), hypertrophic subaortic stenosis, hypertrophies, asymmetric septal, hypertrophy, asymmetric septal, idiopathic hypertrophic subaortic stenosis, idiopathic hypertrophic subvalv stenosis, idiopathic hypertrophic subvalvular stenosis, ihss, ihsss, obstructive cardiomyopathies, hypertrophic, obstructive cardiomyopathy, obstructive cardiomyopathy, hypertrophic, obstructive hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy (disorder) [ambiguous], septal hypertrophies, asymmetric, septal hypertrophy, asymmetric, subvalv stenosis, subvalv stenosis idiopathic hypertrophic, subvalvular stenosis, idiopathic hypertrophic

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    A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.; A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular [...]

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  342. hypertrophic cardiomyopathy 14 cardiomyopathy familial hypertrophic 14, cmh14

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    A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.

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  343. Hypomyelination with atrophy of basal ganglia and cerebellum h-abc

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    A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

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  344. Hypophosphatasia hypophosphatasia

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    A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.

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  345. Hypoplasia of the optic nerve

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  346. hypoplastic left heart syndrome hlhs

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    Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.; prototype_pattern

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  347. Hypoplastic left heart syndrome hlhs

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    A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.

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  348. Idiopathic Pulmonary Fibrosis idiopathic pulmonary fibrosis, ipf

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    Chronic and progressive fibrosis of the lung parenchyma of unknown cause.

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  349. Idiopathic Pulmonary Hypertension idiopathic pulmonary arterial hypertension, idiopathic pulmonary hypertension, ipah

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    Increased blood pressure in the arteries of the lungs; the etiology is unknown.

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  350. IGA glomerulonephritis berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, igan, immunoglobulin a nephropathy, nephropathy, iga, primary iga nephropathy, segmental glomerulonephritis

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    A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease.; Inflammation of a specific segment of glomeruli within the kidney.

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  351. immune system disease autoimmune disease nec, autoimmune disease, not elsewhere classified, autoimmune diseases, defic cell immunity nos, deficiency of cell-mediated immunity, disease of immune system, disease or disorder of immune system, disorder of immune system, disorder of the immune mechanism nos, disorder of the immune mechanism nos (disorder), disorders involving the immune mechanism, immundef t-cell def nos, immune disease, immune disorder, immune dysfunction, immune mechanism dis nec, immune mechanism dis nos, immune system and related disorders, immune system disease or disorder, immune system disorder, immunodeficiency and immunosuppression disorders, immunodeficiency with predominant t-cell defect, unspecified, other deficiency of cell-mediated immunity, other specified disorders involving the immune mechanism, other specified disorders of the immune mechanism, other specified disorders of the immune mechanism (disorder), unspecified disorder of immune mechanism, [x]disorder involving the immune mechanism, unspecified, [x]disorder involving the immune mechanism, unspecified (disorder)

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    A disorder resulting from an abnormality in the immune system.; A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and [...]

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  352. Immunodeficiency immunodeficiency, immunodeficient

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    A disorder in which the immune system is unable to mount an adequate immune response.

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  353. Immunodeficiency 14A, Autosomal Dominant activated pi3k-delta syndrome, apds, imd14a, immunodeficiency 14, immunodeficiency 14a, autosomal dominant

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    An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.

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  354. Inclusion Body Myositis inclusion body myositis

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    An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues.

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  355. Infertility infertility

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    Inability to produce live offspring.

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  356. Inflammatory Bowel Disease autoimmune bowel disorder, ibd, inflammatory bowel disease

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    A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.

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  357. inflammatory disease anatomical structure inflammation, inflammation of anatomical structure, inflammatory disease, inflammatory disorder

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    A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]; A disease involving a pathogenic inflammatory response in the anatomical structure.

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  358. Inherited arrhythmogenic cardiomyopathy arrhythmogenic right ventricular cardiomyopathy

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    A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.

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  359. intellectual developmental disorder 61 intellectual developmental disorder 61, mental retardation, autosomal dominant 61, mrd61

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  360. Intellectual disability dull intelligence, intellectual disability, low intelligence, mental deficiency, mental retardation, mental retardation, nonspecific, mental-retardation, nonprogressive intellectual disability, nonprogressive mental retardation, poor school performance

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    Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.; This term should be used for children who are at least five years old. For younger children, consider using the term Global developmental delay (HP:0001263).

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  361. Intellectual Disability intellectual disabilities, intellectual disability

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    A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.

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  362. Intermediate epidermolysis bullosa simplex with cardiomyopathy intermediate ebs with cardiomyopathy

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    A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular [...]

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  363. ischemia reperfusion injury ischaemia reperfusion injury, ischemia reperfusion injury, myocardial reperfusion injury

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    Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.; Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations [...]

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  364. Joubert Syndrome joubert syndrome

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    A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

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  365. Joubert syndrome cerebelloparenchymal disorder iv, classic joubert syndrome, cpd iv, joubert syndrome type a, joubert-boltshauser syndrome, pure joubert syndrome

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    A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

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  366. Juvenile amyotrophic lateral sclerosis jals, juvenile charcot disease, juvenile lou gehrig disease

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    Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.

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  367. Juvenile Huntington disease jhd, juvenile huntington chorea

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    Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

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  368. Juvenile Myelomonocytic Leukemia jcml, jmml, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukemia, juvenile chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia

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    A clonal myeloid disorder of childhood previously classified as myelodysplastic/myeloproliferative neoplasm. It is characterized by the presence of monocytic proliferation in peripheral blood, less than 20% blasts in bone marrow and peripheral blood, splenomegaly, and the absence of BCR-ABL1 fusion. Almost all patients carry mutations of the RAS pathway.

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  369. Kabuki Syndrome kabuki make-up syndrome, kabuki syndrome, kms, niikawa-kuroki syndrome

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    A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.

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  370. Kabuki syndrome kabuki make-up syndrome, niikawa-kuroki syndrome

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    A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad [...]

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  371. karyomegalic interstitial nephritis kin, kmin

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    An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.

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  372. KCNQ2-related epileptic encephalopathy kcnq2-nee, kcnq2-related neonatal epileptic encephalopathy

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    KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The [...]

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  373. Keipert syndrome nasodigitoacoustic syndrome

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    A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have [...]

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  374. Keratoconjunctivitis sicca dry eye syndrome, dry eyes, keratitis sicca, xerophthalmia

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    Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.

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  375. Kleefstra Syndrome chromosome 9q34.3 deletion syndrome, kleefstra syndrome

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    A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.

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  376. Klinefelter syndrome hypogonadotropic hypogonadism, klinefelter's syndrome, xxy syndrome, xxy trisomy

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    A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.; No OMIM mapping, confirmed by DO. [LS].

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  377. Klinefelter's syndrome 47,xxy syndrome, hypogonadotropic hypogonadism, klinefelter syndrome, klinefelter's syndrome, klinefelter's syndrome, xxy, xxy syndrome, xxy syndrome (klinefelter syndrome), xxy trisomy

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    A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype [...]

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  378. Knobloch syndrome knobloch-layer syndrome, retinal detachment-occipital encephalocele syndrome

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    A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.

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  379. Krabbe disease galactocerebrosidase deficiency, galactosylceramidase deficiency, galc deficiency, globoid cell leukodystrophy

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    A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).

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  380. laminin alpha 2-related dystrophy lama2-related muscular dystrophy

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    Llaminin alpha 2-related dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.

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  381. late-onset Alzheimer's disease alzheimer senile dementia, alzheimer type senile dementia, late-onset alzheimer's, senile dementia, alzheimer type

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    This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers haven’t found a particular gene that causes it. No one knows for sure why some people get it and others don’t.

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  382. Leber congenital amaurosis lca, leber's amaurosis, leber's congenital amaurosis, leber's disease

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    A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  383. Leber Congenital Amaurosis leber congenital amaurosis

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    A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.

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  384. Leber congenital amaurosis 12 amaurosis congenita of leber, type 12, lca12, leber congenital amaurosis 12, leber congenital amaurosis caused by mutation in rd3, leber congenital amaurosis type 12, rd3 leber congenital amaurosis

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    Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.

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  385. Leber congenital amaurosis 2 amaurosis congenita of leber ii, lca2

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    A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.

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  386. Leber congenital amaurosis 2 amaurosis congenita of leber 2, amaurosis congenita of leber ii, amaurosis congenita of leber, type 2, lca2, leber congenital amaurosis 2, leber congenital amaurosis caused by mutation in rpe65, leber congenital amaurosis type 2, rpe65 leber congenital amaurosis

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    Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.

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  387. Leber hereditary optic neuropathy leber's hereditary optic neuropathy, leber's optic atrophy

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    OMIM mapping confirmed by DO. [SN].

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  388. Leber hereditary optic neuropathy leber optic atrophy, lhon

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    A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.

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  389. Left bundle branch block

    A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.

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  390. Left Bundle Branch Block Artifact left bundle branch block, left bundle branch block artifact

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    An imaging artifact resulting from a patient left bundle branch block.

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  391. Left Ventricular Non-Compaction Syndrome left ventricular non-compaction cardiomyopathy, left ventricular non-compaction syndrome, lv non-compaction syndrome, lvnc

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    An uncommon congenital abnormality where the left ventricular myocardium fails to compact during embryonic development, leading to cardiomyopathy with a variable degree of ventricular dysfunction. There is genetic heterogeneity and phenotypic variability. Characteristically, there are typically deep trabeculations in the noncompacted area, with varying proportions of the LV myocardium compacted. LV noncompaction is associated with rhythm [...]

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  392. Left ventricular noncompaction cardiomyopathy left ventricular non-compaction cardiomyopathy

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    Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.; Left ventricular noncompaction cardiomyopathy (LVNC), also known as [...]

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  393. Leigh Disease leigh disease, leigh syndrome, leigh's disease

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    An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.

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  394. Leigh syndrome infantile necrotizing encephalomyelopathy, infantile subacute necrotizing encephalopathy, juvenile subacute necrotizing encephalomyelopathy, leigh disease, leigh syndrome, leigh syndrome due to mitochondrial complex 1 deficiency, leigh syndrome due to mitochondrial complex 2 deficiency, leigh syndrome due to mitochondrial complex 3 deficiency, leigh syndrome due to mitochondrial complex 4 deficiency, leigh syndrome due to mitochondrial complex 5 deficiency, leigh syndrome spectrum, leigh's disease, leigh's necrotizing encephalopathy, ls, lss, necrotizing encephalopathy, infantile subacute, of leigh, sne, subacute necrotizing encephalomyelopathy, subacute necrotizing encephalopathy

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    A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

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  395. Leigh syndrome infantile subacute necrotizing encephalopathy, leigh disease

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    A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

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  396. Lennox-Gastaut Syndrome lennox-gastaut syndrome, lgs

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    A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems.

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  397. Lesch-Nyhan Syndrome lesch-nyhan syndrome

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    An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).

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  398. Lesch-Nyhan syndrome hprt complete deficiency, hprt deficiency grade iv, hypoxanthine guanine phosphoribosyltransferase complete deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv

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    Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

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  399. Lethal brain and heart developmental defects

    A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.

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  400. lethal congenital contracture syndrome 1 gle1 lethal congenital contracture syndrome, herva disease, lccs, lccs1, lethal autosomal recessive syndrome of multiple congenital contractures, lethal congenital contracture syndrome 1, lethal congenital contracture syndrome caused by mutation in gle1, lethal congenital contracture syndrome type 1, multiple contracture syndrome, finnish type

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    Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, [...]

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  401. Leukemia blood (leukemia), leukemia, leukemia nos, leukemia, disease, leukemia, malignant, leukemia, nos, leukemias, leukemias, general

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    A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include [...]

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  402. Leukodystrophy leukodystrophy

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    A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and [...]

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  403. leukodystrophy, hypomyelinating, 22 hld22

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  404. Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome lbsl, leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

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    This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

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  405. Li-Campeau syndrome licas

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  406. limb-girdle muscular dystrophy erb's muscular dystrophy, leyden-mbius muscular dystrophy, limb girdle muscular dystrophy

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    A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  407. Limb-Girdle Muscular Dystrophy Type 2B autosomal recessive muscular dystrophy limb-girdle 2, lgmd2b, lgmdr2, limb-girdle muscular dystrophy type 2b

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    An autosomal recessive condition caused by mutation(s) in the DYSF gene, encoding dysferlin. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.

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  408. Lissencephaly lissencephaly

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    A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.

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  409. Loeys-Dietz syndrome 3 aneurysms-osteoarthritis syndrome, lds1c, lds3, loeys-dietz syndrome type 1c, loeys-dietz syndrome with osteoarthritis

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    A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.

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  410. Loeys-Dietz syndrome 5 lds5, reinhoff syndrome, rnhf

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    A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

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  411. Long QT Syndrome long qt syndrome, ventricular arrhythmia associated with long qt syndrome

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    A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may [...]

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  412. long QT syndrome 1 lqt1, ventricular fibrillation with prolonged qt interval

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    A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4.

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  413. Long QT Syndrome 1 long qt syndrome 1, lqt1, romano-ward syndrome

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    An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  414. long QT syndrome 2 lqt2

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    A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

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  415. Long QT Syndrome 2 long qt syndrome 2, lqt2

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    An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  416. Long QT Syndrome 3 long qt syndrome 3, lqt3

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    An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  417. Long QT Syndrome 8 long qt syndrome 8, lqt8, timothy syndrome

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    An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

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  418. Loss of Function Gene Mutation inactivating gene mutation, inactivating mutation, loss of function gene mutation, loss of function mutation

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    A change in the nucleotide sequence of a gene that results in decreased expression or activity for the encoded protein.

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  419. Lubs X-Linked Mental Retardation Syndrome lubs x-linked mental retardation syndrome, mecp2 duplication syndrome, mrxsl

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    An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.

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  420. Lujan-Fryns syndrome x-linked intellectual disability with marfanoid habitus

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    The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

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  421. lung cancer adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation, adenocarcinoma of lung, somatic, alveolar cell carcinoma, cancer of lung, lung cancer, lung cancer, protection against, lung cancer, protection against, autosomal dominant, somatic mutation, lung cancer, resistance to, autosomal dominant, somatic mutation, lung cancer, somatic, lung cancer, susceptibility to, autosomal dominant, somatic mutation, lung neoplasm, malignant lung neoplasm, malignant lung tumor, malignant lung tumour, malignant neoplasm of lung, malignant neoplasm of the lung, malignant tumor of lung, malignant tumor of the lung, malignant tumour of lung, malignant tumour of the lung, nonsmall cell lung cancer, nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation, nonsmall cell lung cancer, somatic, nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation

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    A malignant neoplasm involving the lung.

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  422. LYN Gene Mutation jtk8 gene mutation, lyn gene mutation, lyn proto-oncogene, src family tyrosine kinase gene mutation, v-yes-1 yamaguchi sarcoma viral oncogene homolog gene mutation

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    A change in the nucleotide sequence of the LYN gene.

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  423. macular corneal dystrophy fehr corneal dystrophy, macular dystrophy, corneal, 1

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    A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.

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  424. macular degeneration macular degeneration of retina

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    A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.; Xref MGI.

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  425. MADD

    MAP-kinase activating death domain; Other designations: MAP kinase-activating death domain protein|Rab3 GDP/GTP exchange factor|differentially expressed in normal and neoplastic cells|insulinoma glucagonoma clone 20

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  426. major depressive disorder major depression, major depressive disorder, major depressive disorder 1, major depressive disorder 2, major depressive disorder and accelerated response to antidepressant drug treatment, major depressive disorder, response to citalopram therapy in, recurrent major depression, single major depressive episode, unipolar depression, unipolar depression, susceptibility to

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    An episode of depression lasting two or more weeks without an intervening episode of mania.

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  427. Marfan Syndrome marfan syndrome, marfan's syndrome

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    A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

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  428. Marfan syndrome mfs

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    Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

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  429. Maroteaux-Lamy Syndrome maroteaux-lamy syndrome, mucopolysaccharidosis type vi, mucopolysaccharidosis vi

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    A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.

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  430. maternally-inherited diabetes and deafness ballinger wallace syndrome, ballinger-wallace syndrome, diabetes and deafness, maternally inherited, diabetes mellitus type ii with deafness, diabetes mellitus, type ii, with deafness, diabetes-deafness syndrome, maternally transmitted, maternally inherited diabetes and deafness, midd, mitochondrial diabetes, niddm with deafness, noninsulin-dependent diabetes mellitus with deafness

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    Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

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  431. maternally-inherited Leigh syndrome leigh disease, maternally inherited, maternally inherited leigh syndrome, maternally-inherited infantile subacute necrotizing encephalopathy, maternally-inherited leigh disease, mils, mitochondrial dna-associated leigh syndrome, subacute necrotizing encephalomyelopathy maternally inherited

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    Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.

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  432. maturity-onset diabetes of the young type 10 mody10

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    A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.

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  433. maturity-onset diabetes of the young type 2 mody glucokinase-related, mody type 2, mody2

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    A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.

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  434. Medulloblastoma cns, medulloblastoma, medulloblastoma, medulloblastoma, malignant, medulloblastomas

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    A malignant, invasive embryonal neoplasm arising from the cerebellum or posterior fossa. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma [...]

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  435. Meester-Loeys syndrome mrls

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    A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.

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  436. megacystis-microcolon-intestinal hypoperistalsis syndrome 5

    Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014).

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  437. Meniere disease meniere disease, meniere's disease, mnire's vertigo, otogenic vertigo

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    A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.; A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.

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  438. Mental Retardation mental retardation

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    A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.

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  439. Mental Retardation, Autosomal Dominant 39 mental retardation, autosomal dominant 39, mrd39

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    An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.

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  440. Mental Retardation, Autosomal Dominant 5 mental retardation, autosomal dominant 5, mrd5

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    An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder.

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  441. Microcephaly-capillary malformation syndrome mic-cap syndrome, mic-cm syndrome, microcephaly-cutaneous capillary malformation syndrome

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    Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

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  442. migraine disorder migraine, migraine disorder, migraine headache, migraine variant, migraine with or without aura

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    A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.

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  443. Mild Cognitive Impairment

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  444. MIRAGE syndrome myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

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    A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted [...]

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    Associated cell lines:
  445. mitochondrial disease

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  446. mitochondrial DNA depletion syndrome mtdna depletion syndrome

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    A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

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  447. Mitochondrial DNA depletion syndrome, myopathic form mtdna depletion syndrome, myopathic form

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    A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.

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  448. mitochondrial encephalomyopathy

    A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)

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  449. Mitochondrial pyruvate carrier deficiency

    A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive [...]

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  450. MODY maturity-onset diabetes of the young

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    MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

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  451. monogenic diabetes monogenic diabetes, monogenic diabetes mellitus, rare genetic diabetes mellitus

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    Diabetes mellitus that is caused by mutations in a single gene.; Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood.

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  452. monogenic disease

    A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.

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  453. Monosomy 22q13.3 22q13.3 deletion, phelan-mcdermid syndrome

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    Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

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  454. Mowat-Wilson syndrome hirschsprung disease intellectual disability syndrome, hirschsprung disease mental retardation syndrome, hirschsprung disease-intellectual disability syndrome, hirschsprung disease-mental retardation syndrome, intellectual disability, microcephaly, and distinct facial features with or without hirschsprung disease, mental retardation, microcephaly, and distinct facial features with or without hirschsprung disease, microcephaly, intellectual disability, and distinct facial featrues, with or without hirschprung disease, microcephaly, intellectual disability, and distinct facial features, with or without hirschsprung disease, microcephaly, mental retardation, and distinct facial featrues, with or without hirschprung disease, microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, mowat-wilson syndrome, mows

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    Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.

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  455. Moyamoya Disease moyamoya disease

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    A rare inherited vascular disorder characterized by constriction of arteries at the base of the brain, resulting in the formation of collateral circulation in order to compensate for the constriction. The name "moyamoya" in Japanese means "puff of smoke" and derives from the characteristic radiographic appearance of the collateral vessels.

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  456. Mucopolysaccharidosis II

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  457. Mucopolysaccharidosis Type IVB mps iv b, mucopolysaccharidosis type ivb

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    A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.

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  458. Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome march syndrome

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    A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the [...]

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  459. Multiple Acyl-CoA Dehydrogenase Deficiency glutaric acidemia type 2, glutaric aciduria, type 2, multiple acyl coenzyme a dehydrogenase deficiency, multiple acyl-coa dehydrogenase deficiency

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    A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes.

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  460. multiple endocrine neoplasia type 1 endocrine adenomatosis multiple, endocrine adenomatosis, multiple, mea 1, mea type 1, mea type i, men 1, men type 1, men type i, men1, men1 multiple endocrine neoplasia, men1 somatic mutations, men1 syndrome, multiple endocrine adenomatosis, multiple endocrine adenomatosis type 1, multiple endocrine adenomatosis type i, multiple endocrine adenomatosis, type i, multiple endocrine neoplasia 1, multiple endocrine neoplasia caused by mutation in men1, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 1 syndrome, multiple endocrine neoplasia type i, multiple endocrine neoplasia, type 1, multiple endocrine neoplasia, type i, wermer syndrome, wermer's syndrome

    Show synonyms

    Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.

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  461. multiple myeloma al amyloidosis, amyloidosis, systemic, kahler disease, kahler's disease, medullary plasmacytoma, multiple myeloma, multiple myeloma, resistance to, somatic mutation, multiple myeloma, susceptibility to, somatic mutation, multiple myeloma/plasma cell myeloma, myeloid neoplasm of plasma cell, myeloma, myeloma - multiple, myeloma, multiple, myeloma, plasma cell, malignant, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma

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    A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)

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  462. Multiple Osteochondromas multiple osteochondromas, osteochondromatosis

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    An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.

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  463. Multiple Sclerosis multiple sclerosis

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    A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.

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  464. Muscle filaminopathy filamin c-related filaminopathy, flnc-associated myofibrillar myopathy, mfm5

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    Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. [...]

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  465. Muscle Hypotonia

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  466. Muscular Dystrophy muscular dystrophy

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    A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.

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  467. Myeloid Leukemia, Philadelphia-Positive myeloid leukemia, philadelphia-positive, ph1-positive granulocytic leukemia, ph1-positive myelocytic leukemia, ph1-positive myelogenous leukemia, ph1-positive myeloid leukemia, philadelphia-positive granulocytic leukemia, philadelphia-positive myelocytic leukemia, philadelphia-positive myelogenous leukemia, philadelphia-positive myeloid leukemia

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    Myeloid leukemia characterized by the presence of Philadelphia chromosome.

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  468. MYH7-related skeletal myopathy distal myopathy type 1, gowers disease, laing distal myopathy, laing early-onset distal myopathy, mpd1, myh7-related skeletal myopathy, myopathy distal, type 1, myopathy, distal, 1, myopathy, distal, early-onset, autosomal dominant, myopathy, distal, type 1, myopathy, late distal hereditary, myosin storage myopathy

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    Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

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  469. MYH9-related disease myh9-rd, myh9-related disorder, myh9-related syndrome, myh9-related syndromic thrombocytopenia

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    MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as [...]

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  470. myocardial infarction attack - heart, cardiac infarction, cardiac infarction, nos, heart attack, heart attack, nos, infarct, myocardial, infarction (mi), myocardial, infarction of heart, infarction of heart, nos, infarction, myocardial, infarctions, myocardial, infarcts, myocardial, mi, mi - myocardial infarction, mi, myocardial infarction, myocardial infarct, myocardial infarction, myocardial infarction (disease), myocardial infarction (disorder), myocardial infarction nos, myocardial infarction, (mi), myocardial infarction, nos, myocardial infarctions, myocardial infarcts

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    Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.; NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).

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  471. myoclonic epilepsy benign infantile myoclonic epilepsy, cryptogenic myoclonic epilepsy, early childhood epilepsy, myoclonic, early childhood, myoclonic epilepsy, encephalopathy, myoclonic, epilepsy, early childhood, myoclonic, epilepsy, myoclonic, early childhood, epilepsy, myoclonic, infantile, epilepsy, myoclonic, infantile, benign, epilepsy, myoclonic, infantile, severe, epilepsy, myoclonus, idiopathic myoclonic epilepsy, infantile severe myoclonic epilepsy, myoclonic absence epilepsymyoclonic astatic epilepsy, myoclonic encephalopathy, myoclonic epilepsy, myoclonic epilepsy, benign infantilemyoclonic epilepsy, early childhood, myoclonic epilepsy, infantile, myoclonic epilepsy, infantile, benign, myoclonic epilepsy, infantile, severe, myoclonic epilepsy, severe infantile, myoclonic epilepsy, severe, of infancy, myoclonic seizure disorder, severe infantile myoclonic epilepsy, severe myoclonic epilepsy of infancy, severe myoclonic epilepsy, infantile, symptomatic myoclonic epilepsy

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    A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).

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  472. myofibrillar myopathy 1 arrhythmogenic right ventricular cardiomyopathy 7, arrhythmogenic right ventricular cardiomyopathy 7, formerly, arrhythmogenic right ventricular dysplasia, familial, 7, arrhythmogenic right ventricular dysplasia, familial, 7, formerly, autosomal recessive limb-girdle muscular dystrophy caused by mutation in des, autosomal recessive limb-girdle muscular dystrophy type 2r, cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly, cardiomyopathy, dilated, with conduction defect and muscular dystrophy, cmd1f and lgmd1d, cmd1f and lgmd1d, formerly, des autosomal recessive limb-girdle muscular dystrophy, des myofibrillar myopathy (disease), desmin-related myofibrillar myopathy, desmin-related myopathy, desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy, desminopathy, desminopathy, primary, ibm1, inclusion body myopathy 1, autosomal dominant, inclusion body myopathy 1, autosomal dominant, formerly, mfm1, myofibrillar myopathy (disease) caused by mutation in des, myofibrillar myopathy 1, myofibrillar myopathy type 1, myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy, myopathy, myofibrillar, 1, myopathy, myofibrillar, desmin-related, myopathy, myofibrillar, type 1

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    A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving [...]

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  473. myopathy myopathy

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    A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.; A muscular disease in which the muscle fibers do not function resulting in muscular weakness.; Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition

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  474. myotonic dystrophy type 1 congenital myotonic dystrophy, dystrophia myotonica, myotonic dystrophy of steinert, steinert disease

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    A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.; OMIM mapping confirmed by DO. [SN].

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  475. myotonic dystrophy type 1 dm1, dmpk myotonic dystrophy, dystrophia myotonica, dystrophia myotonica 1, dystrophia myotonica type 1, md1, myotonic dystrophy 1, myotonic dystrophy caused by mutation in dmpk, myotonic dystrophy of steinert, myotonic dystrophy type 1, steinert disease, steinert myotonic dystrophy, steinert myotonic dystrophy syndrome, steinert syndrome, steinert's disease

    Show synonyms

    Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

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  476. Nemaline myopathy nem, nemaline rod myopathy, nm

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    Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.

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  477. Neurodegeneration neuro-degenerative disease, neurodegenerative disease, ongoing loss of nerve cells, progressive neurodegenerative disorder

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    Progressive loss of neural cells and tissue.

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  478. neurodegeneration with brain iron accumulation 4 c19orf12 neurodegeneration with brain iron accumulation, mitochondrial membrane protein-associated neurodegeneration, mitochondrial protein-associated neurodegeneration, mpan, nbia due to c19orf12 mutation, nbia4, neurodegeneration with brain iron accumulation 4, neurodegeneration with brain iron accumulation caused by mutation in c19orf12, neurodegeneration with brain iron accumulation due to c19orf12 mutation, neurodegeneration with brain iron accumulation type 4

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    Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, [...]

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  479. Neurodevelopmental Disorder neurodevelopmental disorder

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    A childhood disorder that has a neurological basis and manifests as a developmental disability.

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  480. Neurodevelopmental disorder child mental disorder, child mental disorders, disorder, child mental, disorder, neurodevelopmental, disorders usually diagnosed in infancy, childhood or adolescence, disorders, child mental, disorders, neurodevelopmental, mental disorder, child, mental disorders diagnosed in childhood, mental disorders, child, neurodevelopmental disorder, neurodevelopmental disorders

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    A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.; A childhood disorder that has a neurological basis and manifests as a developmental disability.

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  481. neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities nedasb, neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

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  482. neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant intellectual disability, autosomal dominant 8, ndhmsr, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

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    NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

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  483. neurofibromatosis

    This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253).

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  484. Neurofibromatosis neurofibromatosis, neurofibromatosis syndrome, neurofibromatosis, nos

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    An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, [...]

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  485. neurofibromatosis type 1 neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 1 microdeletion syndrome, neurofibromatosis type i, neurofibromatosis, peripheral type, neurofibromatosis, type 1, neurofibromatosis, type i, nf1, nf1-microdeletion syndrome, peripheral neurofibromatosis, recklinghausen's disease, type 1 neurofibromatosis, von recklinghausen disease, von reklinghausen disease

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    A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

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  486. Neurofibromatosis Type 1 neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 1 microdeletion syndrome, nf1, peripheral neurofibromatosis, recklinghausen disease, von recklinghausen disease

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    The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop [...]

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  487. Neuronal Intranuclear Inclusion Disease neuronal intranuclear inclusion disease, niid

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    A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive [...]

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  488. neuropathy

    A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness.

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  489. Nijmegen Breakage Syndrome nijmegen breakage syndrome

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    A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99)

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  490. NON RARE IN EUROPE: Hyperlipoproteinemia type 4 familial hypertriglyceridemia, hlp type 4

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    A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.

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  491. Non-specific early-onset epileptic encephalopathy non-specific eoee, undetermined early-onset epileptic encephalopathy, undetermined eoee

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    A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also [...]

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  492. Nonalcoholic Steatohepatitis nash - nonalcoholic steatohepatitis, nonalcoholic steatohepatitis, nonalcoholic steatohepatitis (nash)

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    Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.

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  493. None no abnormalities related to cardiovascular diseases, none, none at all

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    No person or thing, nobody, not any.

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  494. nonischemic cardiomyopathy non-ischaemic cardiomyopathy, non-ischemic cardiomyopathy, nonischaemic cardiomyopathy

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    Forms of cardiomyopathy that are not related to known coronary artery disease.

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  495. Nonketotic hyperglycinemia

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  496. Noonan Syndrome noonan syndrome, noonan's syndrome

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    A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.

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  497. normal average

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    A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average.

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  498. obsessive-compulsive disorder ocd

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    "A pathological anxiety primarily characterized by repetitive obsessions (distressing, persistent, and intrusive thoughts or images) and compulsions (urges to perform specific acts or rituals)." [wikipedia:Obsessive%E2%80%93compulsive_disorder]

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  499. obsessive-compulsive disorder anancastic neurosis, obsessive compulsive disorder, obsessive-compulsive disorder, obsessive-compulsive disorder, susceptibility to, ocd

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    A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.; An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and [...]

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  500. obsolete CLN3 disease

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  501. obsolete Sotos syndrome 1

    Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.; Reason: duplicate. This will be merged with MONDO:0019349 Sotos syndrome

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  502. OBSOLETE: Genetic macular dystrophy

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  503. OBSOLETE: Nuclear cell envelopathy

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  504. obsolete_Alzheimer's disease ad, ad - alzheimer's disease, alzheimer dementia, alzheimer dementia, presenile, alzheimer dis, alzheimer disease, alzheimer type dementia, alzheimer's, alzheimer's dementia, alzheimer's disease (disorder), alzheimer's disease, nos, alzheimers, alzheimers dementia, alzheimers dis, alzheimers disease, dat - dementia alzheimer's type, dementia in alzheimer's disease, dementia in alzheimer's disease (disorder), dementia in alzheimer's disease, unspecified (disorder), dementia of the alzheimer's type, dementia, alzheimer type, dementia, presenile, dementia, presenile alzheimer, disease, alzheimer, disease, alzheimer's, presenile alzheimer dementia, sporadic alzheimer's disease, [x]dementia in alzheimer's disease, [x]dementia in alzheimer's disease (disorder)

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    A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of [...]

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  505. obsolete_amyotrophic lateral sclerosis als, als (amyotrophic lateral sclerosis), als - amyotrophic lateral sclerosis, amyotrophic lateral sclerosis (disorder), amyotrophic lateral sclerosis with dementia, amyotrophic lateral sclerosis, guam form, amyotrophic lateral sclerosis, parkinsonism/dementia complex of guam, amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, amyotrophic sclerosis, bulbar motor neuron disease, charcot disease, dementia with amyotrophic lateral sclerosis, disease, lou-gehrigs, gehrig disease, gehrig's disease, gehrigs dis, gehrigs disease, guam form of amyotrophic lateral sclerosis, lateral scleroses, amyotrophic, lou gehrig dis, lou gehrig disease, lou gehrig's disease, lou gehrigs dis, lou gehrigs disease, lou-gehrigs disease, motor neuron dis amyotrophic lateral sclerosis, motor neuron disease, amyotrophic lateral sclerosis, motor neuron disease, bulbar, sclerosis, amyotrophic lateral

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    A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons [...]

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  506. obsolete_bipolar disorder affective bipolar psychosis, affective psychosis, bipolar, bipolar affective disorder, bipolar affective disorder , current episode mixed (disorder), bipolar affective disorder, current episode depression (disorder), bipolar affective disorder, manic, unspecified degree, bipolar affective disorder, mixed, unspecified degree, bipolar affective psychosis, bipolar depression, bipolar dis, bipolar disease, bipolar disorder (disorder), bipolar disorder manic phase, bipolar disorder nos, bipolar disorder, nos, bipolar disorder, unspecified, bipolar disorders, depression, bipolar, depressive-manic psych., disorder, bipolar, disorder, manic, mania, manias, manic bipolar affective disorder, manic bipolar i disorder, manic bipolar i disorder (disorder), manic depressive disorder, manic depressive illness, manic depressive psychosis, manic dis, manic disorder, manic disorders, manic state, manic states, manic-depression, manic-depressive illness, manic-depressive psychoses, manic-depressive psychosis, manic-depressive syndrome nos, mdi - manic-depressive illness, mixed bipolar affective disorder (disorder), mixed bipolar affective disorder, nos (disorder), mixed bipolar disorder, mixed bipolar i disorder (disorder), psychoses, bipolar affective, psychoses, manic depressive, psychoses, manic-depressive, psychosis, bipolar affective, psychosis, manic depressive, psychosis, manic-depressive, state, manic, states, manic, unspecified bipolar affective disorder, unspecified bipolar affective disorder (disorder), unspecified bipolar affective disorder, nos, unspecified bipolar affective disorder, nos (disorder), unspecified bipolar affective disorder, unspecified, unspecified bipolar affective disorder, unspecified (disorder), [x]bipolar affective disorder, unspecified, [x]bipolar affective disorder, unspecified (disorder)

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    A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).; A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.

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  507. obsolete_multiple sclerosis disseminated sclerosis, ms, ms (multiple sclerosis), multiple sclerosis acute fulminating, multiple sclerosis, acute fulminating, sclerosis, disseminated, sclerosis, multiple

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    An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The [...]

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  508. obsolete_Parkinson's disease idiopathic parkinson dis, idiopathic parkinson disease, idiopathic parkinson's disease, idiopathic parkinsons dis, idiopathic pd, lewy body parkinson dis, lewy body parkinson disease, lewy body parkinson's disease, paralysis agitans, parkinson dis, parkinson dis idiopathic, parkinson disease, parkinson disease, idiopathic, parkinson syndrome, parkinson's, parkinson's disease (disorder), parkinson's disease nos, parkinson's disease nos (disorder), parkinson's disease, idiopathic, parkinson's disease, lewy body, parkinson's syndrome, parkinsonian disorder, parkinsonism, primary, parkinsons, parkinsons dis, parkinsons dis idiopathic, parkinsons dis lewy body, parkinsons disease, primary parkinsonism

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    A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.; A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of [...]

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  509. obsolete_schizophrenia dementia praecox, disorder, schizophrenic, disorders, schizophrenic, other specified types of schizophrenia, other specified types of schizophrenia, chronic state, other specified types of schizophrenia, chronic state with acute exacerbation, other specified types of schizophrenia, in remission, other specified types of schizophrenia, subchronic state, other specified types of schizophrenia, subchronic state with acute exacerbation, other specified types of schizophrenia, unspecified state, schizo nec-chr/exacerb, schizo nec-subchr/exacer, schizo nos-chr/exacerb, schizo nos-subchr/exacer, schizophrenia (disorder), schizophrenia nec-chr, schizophrenia nec-remiss, schizophrenia nec-subchr, schizophrenia nec-unspec, schizophrenia nos, schizophrenia nos (disorder), schizophrenia nos-unspec, schizophrenia, nos, schizophrenia-1, schizophrenias, schizophrenic dis, schizophrenic disorder, schizophrenic disorders, schizophrenic disorders (disorder), scz, unspecified schizophrenia, unspecified schizophrenia (disorder), unspecified schizophrenia, chronic state with acute exacerbation, unspecified schizophrenia, subchronic state with acute exacerbation, unspecified schizophrenia, unspecified state, [x]schizophrenia, unspecified, [x]schizophrenia, unspecified (disorder)

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    A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.; A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and [...]

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  510. obsolete_type I diabetes mellitus autoimmune diabete, autoimmune diabetes, brittle diabetes mellitus, diabete, autoimmune, diabetes mellitus type 01, diabetes mellitus type 1, diabetes mellitus type 1 (disorder), diabetes mellitus type i, diabetes mellitus type i [insulin dependent type] [iddm] [juvenile type], not stated as uncontrolled, with unspecified complication, diabetes mellitus type i [insulin dependent type] [iddm] [juvenile type], uncontrolled, with unspecified complication, diabetes mellitus, brittle, diabetes mellitus, insulin dependent, diabetes mellitus, insulin-dependent, diabetes mellitus, juvenile onset, diabetes mellitus, juvenile-onset, diabetes mellitus, ketosis prone, diabetes mellitus, ketosis-prone, diabetes mellitus, sudden onset, diabetes mellitus, sudden-onset, diabetes mellitus, type 1, diabetes mellitus, type i, diabetes, autoimmune, dmi unspf nt st uncntrld, dmi unspf uncntrld, iddm, iddm - insulin-dependent diabetes mellitus, insulin dependent diabetes, insulin dependent diabetes mellitus, insulin-dependent diabetes mellitus, juvenile diabetes, juvenile onset diabetes mellitus, juvenile-onset diabetes mellitus, ketosis-prone diabetes mellitus, mellitus, sudden-onset diabetes, sudden-onset diabetes mellitus, t1d, t1dm, type 1 diabetes, type 1 diabetes mellitus, type i diabetes

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    A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.; An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of [...]

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  511. Oculocutaneous Albinism Type 1A oca1a, oculocutaneous albinism type 1a

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    Oculocutaneous albinism inherited in an autosomal recessive pattern, and caused by mutation(s) in the TYR gene, encoding tyrosinase.

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  512. Ohdo syndrome ohdo blepharophimosis syndrome

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    A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.; NT MGI.

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  513. Osteogenesis Imperfecta osteogenesis imperfecta

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    A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.

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  514. osteogenesis imperfecta type 1 oi1, osteogenesis imperfecta type i

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    An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

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  515. otosclerosis otosclerosis, otosclerosis (disease), otospongiosis

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    Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.; Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to [...]

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  516. P450 Oxidoreductase Deficiency p450 oxidoreductase deficiency

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    Decreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene.

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  517. pain agnosia agnosia for pain, analgesia, pain agnosia

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    An agnosia that is a loss of the ability to perceive and process pain. Pain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are [...]

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    Associated cell lines:
  518. Parkinson disease paralysis agitans, parkinson disease, parkinson's disease

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    A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.

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  519. Parkinson Disease

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  520. Parkinson's Disease parkinson disease, parkinson's disease

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    A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.

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  521. Parkinson's disease 7 autosomal recessive early-onset parkinson disease 7, autosomal recessive early-onset parkinson's disease 7

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    An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.

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  522. Paroxysmal atrial fibrillation atrial fibrillation, paroxysmal, intermittent atrial fibrillation, paroxysmal af

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    Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.

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  523. Paroxysmal ventricular tachycardia episodes of ventricular tachycardia

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    Episodes of ventricular tachycardia that have a sudden onset and ending.

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  524. Patau syndrome d1 trisomy, patau's syndrome, trisomy 13

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    OMIM mapping confirmed by DO. [LS].

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  525. Pelizaeus-Merzbacher disease diffuse familial brain sclerosis, pelizaeus-merzbacher brain sclerosis, pmd, sudanophilic leukodystrophy, paelizeus-merzbacher type

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    Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).

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  526. Pendred Syndrome pendred syndrome

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    A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.

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  527. peripartum cardiomyopathy antepartum peripartum cardiomyopathy, meadows' syndrome, peripartum cardiomyopathy, postpartum cardiomyopathy, postpartum cardiomyopathy (disorder), postpartum peripartum cardiomyopathy, puerperal cardiomyopathy

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    Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.; Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As [...]

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  528. periventricular nodular heterotopia periventricular heterotopia, periventricular nodular heterotopia

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    Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous [...]

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    Associated cell lines:
  529. Phelan-McDermid syndrome 22q13 deletion, 22q13.3 deletion syndrome, chromosome 22q13.3 deletion syndrome, deletion 22q13.3 syndrome, monosomy 22q13, monosomy type 22q13, phelan mcdermid syndrome, phelan-mcdermid syndrome, phmds, telomeric 22q13 monosomy syndrome

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    Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

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  530. Phelan-McDermid Syndrome chromosome 22q13.3 deletion syndrome, phelan-mcdermid syndrome, phmds

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    An autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features.

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  531. phenylketonuria hpa, non-pku mild, hyperphenylalaninemia, non-pku mild, imbecilitus phenylpyruvica, oligophrenia phenylpyruvica, pah deficiency, phenylalanine hydroxylase deficiency, phenylalaninemia, phenylketonuria, phenylketonuria, maternal, phenylpyruvic oligophrenia, pku

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    Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.

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  532. PMM2-CDG carbohydrate deficient glycoprotein syndrome type ia, cdg syndrome type ia, cdg-ia, cdg1a, congenital disorder of glycosylation type 1a, congenital disorder of glycosylation type ia, phosphomannomutase 2 deficiency

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    A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations [...]

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  533. Polycystic Kidney Disease fibrocystic renal disease, pkd - polycystic kidney disease, polycystic kidney disease

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    A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may [...]

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  534. polycystic ovary syndrome cystic disease of ovaries, hyperandrogenemia, multicystic ovaries, ovarian degeneration, sclerocystic, ovarian syndrome, polycystic, ovarian syndromes, polycystic, ovaries, sclerocystic, ovary syndrome, polycystic, ovary, sclerocystic, pco - polycystic ovaries, pco1, pcod - polycystic ovarian disease, pcos, pcos - polycystic ovarian syndrome, pcos1, polycystic ovarian disease, polycystic ovarian syndrome, polycystic ovaries, polycystic ovaries (disorder), polycystic ovary, polycystic ovary syndrome, polycystic ovary syndrome 1, sclerocystic ovarian degeneration, sclerocystic ovaries, sclerocystic ovary, sclerocystic ovary syndrome, stein leventhal syndrome, stein-leventhal synd., stein-leventhal syndrome, syndrome, polycystic ovary, syndrome, stein-leventhal

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    A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.; A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and [...]

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  535. Polycythemia Vera chronic erythremia, polycythemia rubra vera, polycythemia vera, polycythemmia vera

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    A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage.

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  536. pontocerebellar hypoplasia type 1B exosc3 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in exosc3, pch1b, pontocerebellar hypoplasia type 1b, pontocerebellar hypoplasia, type 1b

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    Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.

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  537. Prader-Willi syndrome prader-labhart-willi syndrome

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    A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.

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  538. prediabetes syndrome prediabetes, prediabetic state

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    A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.

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  539. Primary ciliary dyskinesia pcd

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    A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

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  540. Primary cutaneous amyloidosis plca, primary localized cutaneous amyloidosis

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    A rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.

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  541. Primary erythromelalgia primary erythermalgia

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    Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.

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  542. Primary hyperaldosteronism

    A form of hyperaldosteronism caused by a defect within the adrenal gland.

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  543. Primary immunodeficiency

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  544. Primary Open Angle Glaucoma primary open angle glaucoma

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    A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.

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  545. primary progressive multiple sclerosis ppms, primary-progressive ms

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    A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.

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  546. primary progressive multiple sclerosis ppms, primary-progressive ms

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    A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.

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  547. primary progressive multiple sclerosis multiple sclerosis primary progressive, ppms, primary progressive multiple sclerosis, primary-progressive ms, primary-progressive multiple sclerosis

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    A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.; Primary progressive multiple sclerosis is the form of the multiple sclerosis in which clinical disability progression occurs continuously without remissions.

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  548. Progressive myoclonic epilepsy type 1 epm1, progressive myoclonus epilepsy type 1, uld, unverricht-lundborg disease

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    A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

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  549. Progressive supranuclear palsy psp syndrome

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    A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.

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  550. Prolidase Deficiency prolidase deficiency

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    A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.

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  551. proliferative diabetic retinopathy pdr, proliferative diabetic retinopathy

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    Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.; Later stage of diabetic retinopathy, characterized by neovascularisation of the retina

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  552. Prolonged QT interval long q-t syndrome, long qt syndrome, prolong qt interval on ekg

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    Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).; The QT interval represents electrical depolarization and repolarization of the left and right ventricles.

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  553. propionic acidemia glycinemia, ketotic, ketotic glycinemia, ketotic hyperglycinemia, ketotic ii glycinemia, propionic aciduria, propionyl-coa carboxylase deficiency

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    An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.; OMIM mapping confirmed by DO. [SN].

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    Associated cell lines:
  554. Propionic Acidemia propionic acidemia

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    A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.

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  555. prostate adenocarcinoma adenocarcinoma of prostate, adenocarcinoma of the prostate, prad, prostate adenocarcinoma, prostate gland adenocarcinoma

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    A carcinoma that arises from glandular epithelial cells of the prostate gland

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  556. Proximal spinal muscular atrophy type 1 infantile spinal muscular atrophy, infantile-onset spinal muscular atrophy, sma type 1, sma type i, sma-i, sma1, werdnig-hoffmann disease

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    A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the [...]

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  557. Proximal spinal muscular atrophy type 2 intermediate spinal muscular atrophy, sma type 2, sma type ii, sma-ii, sma2

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    A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.

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  558. Psoriasis psoriasis

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    An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.

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  559. psoriasis other and unspecified pityriasis, other psoriasis, other psoriasis and similar disorders, other psoriasis and similar disorders (disorder), other psoriasis and similar disorders excluding psoriatic arthropathy, palmoplantaris pustulosis, pityriasis nec & nos, psorias related dis nec, psoriases, psoriasis, psoriasis and similar disorders, psoriasis and similar disorders (disorder), psoriasis and similar disorders (navigational concept), psoriasis and similar disorders nos, psoriasis and similar disorders nos (disorder), pustular psoriasis of palms and soles, pustular psoriasis of palms soles, pustulosis of palms and soles, pustulosis of palms soles, pustulosis palmaris et plantaris

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    A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.; An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the [...]

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  560. PTEN hamartoma tumor syndrome phts, pten hamartoma tumor syndrome

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    A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.

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  561. PTEN Hamartoma Tumor Syndrome phts, pten hamartoma tumor syndrome

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    A rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma.

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  562. Pulmonary Surfactant Metabolism Dysfunction-3 interstitial lung disease due to abca3 deficiency, pulmonary surfactant metabolism dysfunction-3, smdp3, surfactant apoprotein abca3 deficiency, surfactant metabolism dysfunction-3, surfactant protein abca3 deficiency

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    An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants.

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  563. Pulmonary Valve Atresia with Intact Ventricular Septum pulmonary atresia with intact ventricular septum, pulmonary valve atresia with intact ventricular septum

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    Pulmonary valve atresia not associated with a ventricular septal defect.

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  564. Pyruvate Carboxylase Deficiency pyruvate carboxylase deficiency, pyruvate carboxylase deficiency disease

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    A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.

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  565. Rare hypertrophic cardiomyopathy

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  566. RASopathy rasopathies, rasopathy

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    A group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines [...]

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  567. recessive dystrophic epidermolysis bullosa autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type, rdeb, hallopeau-siemens type, severe generalized rdeb, severe generalized recessive dystrophic epidermolysis bullosa

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    An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.

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  568. Relapsing-Remitting Multiple Sclerosis relapsing-remitting multiple sclerosis

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    A type of multiple sclerosis characterized by intermittent flare-ups with a return to few or no symptoms.

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  569. relapsing-remitting multiple sclerosis acute relapsing multiple sclerosis, ms relapsing remitting, multiple sclerosis, acute relapsing, multiple sclerosis, relapsing remitting, multiple sclerosis, relapsing-remitting, multiple sclerosis, remitting-relapsing, relapsing remitting multiple sclerosis, relapsing-remitting ms, relapsing-remitting multiple sclerosis, remitting relapsing multiple sclerosis, remitting-relapsing multiple sclerosis, rrms

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    The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. [...]

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  570. Restrictive Cardiomyopathy restrictive cardiomyopathy

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    A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.

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  571. retinal detachment detached retina, retina, detached, retinal detachment

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    An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.

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  572. retinal vein occlusion occlusion, of retinal vein, retinal vein occlusion

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    An occlusion of the retinal vein.

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  573. retinitis pigmentosa pericentral pigmentary retinopathy, retinitis pigmentosa, rod-cone dystrophy

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    Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

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  574. Retinitis Pigmentosa retinitis pigmentosa

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    A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.

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  575. Retinitis Pigmentosa

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  576. Retinitis pigmentosa

    Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

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  577. Retinoblastoma rb, retinoblastoma, retinoblastoma, malignant, retinoblastoma, nos

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    A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur [...]

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  578. Retinoblastoma

    A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

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  579. Rett syndrome autism, dementia, ataxia, and loss of purposeful hand use, cerebroatrophic hyperammonemia, rett syndrome, rett syndrome, atypical, rett syndrome, atypical, x-linked dominant, rett syndrome, preserved speech variant, rett syndrome, preserved speech variant, x-linked dominant, rett syndrome, x-linked dominant, rett syndrome, zappella variant, rett's disorder, rts, rtt

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    A severe neurodevelopmental disorder affecting the central nervous system.

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  580. Rett Syndrome rett syndrome, rett's syndrome

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    A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.

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  581. Rheumatoid arthritis ra, rheumatoid arthritis

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    Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.

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  582. Rheumatoid Arthritis ra, rheumatoid arthritis, rheumatoid arthritis, unspecified

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    A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.

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  583. Ring chromosome 13 syndrome ring 13, ring chromosome 13

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    A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands [...]

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  584. Ring chromosome 18 syndrome ring 18, ring chromosome 18

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    A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.

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  585. Rubinstein Taybi like syndrome broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses

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  586. Rubinstein-Taybi syndrome broad thumb-hallux syndrome, broad thumbs-halluces syndrome

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    A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.

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  587. Sanfilippo syndrome type C heparan-alpha-glucosaminide n-acetyltransferase deficiency, hgsnat deficiency, mps3c, mpsiiic, mucopolysaccharidosis type 3c, mucopolysaccharidosis type iiic

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    Associated cell lines:
  588. Schimke immuno-osseous dysplasia schimke syndrome, spondyloepiphyseal dysplasia-nephrotic syndrome

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    A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.

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  589. Schinzel-Giedion Midface-Retraction Syndrome schinzel-giedion midface-retraction syndrome, schinzel-giedion syndrome

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    An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation.

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  590. Schizophrenia schizophrenia, schizophrenia, unspecified

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    A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.

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  591. Senior-Loken syndrome loken senior syndrome, renal-retinal syndrome

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    A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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    Associated cell lines:
  592. Severe Combined Immunodeficiency scid, severe combined immune deficiency, severe combined immunodeficiency, severe combined immunodeficiency disease

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    X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004

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  593. Sick sinus syndrome sinoatrial node disease

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    An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.

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    Associated cell lines:
  594. Sickle cell anemia

    A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.

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  595. Simplified gyral pattern cortical gyral simplification

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    An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.

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  596. Sinus Bradycardia sinus bradycardia

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    A disorder characterized by an electrocardiographic finding of abnormally slow heart rate with its origin in the sinus node. Thresholds for different age, gender, and patient populations exist. (CDISC)

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  597. Sinus Node Dysfunction sinus node dysfunction

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    A derangement in the normal functioning of the sinoatrial node. Typically, SA node dysfunction is manifest as sinoatrial exit block or sinus arrest, but may present as an absolute or relative bradycardia in the presence of a stressor. It may be associated with bradycardia-tachycardia syndrome

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  598. Small Fiber Neuropathy painful peripheral neuropathy small nerve fiber neuropathy, small fiber neuropathy

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    Neuropathy caused by damage to the small myelinated (A-delta) fibers or unmyelinated C fibers in the peripheral nerves. It manifests with burning pain, shooting pain, allodynia, and hyperesthesia.

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  599. Smith-Magenis syndrome 17p11.2 microdeletion syndrome

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    A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).

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    Associated cell lines:
  600. sorbitol dehydrogenase deficiency with peripheral neuropathy sordd

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    A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.

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  601. Sorsby fundus dystrophy fundus dystrophy, pseudoinflammatory, of sorsby, hemorrhagic macular dystrophy, macular dystrophy, hemorrhagic, pseudoinflammatory fundus dystrophy of sorsby, sfd, sorsby fundus dystrophy, sorsby pseudoinflammatory fundus dystrophy, sorsby's fundus dystrophy, sorsby's pseudoinflammatory macular dystrophy

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    A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.

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    Associated cell lines:
  602. Sotos Syndrome cerebral gigantism syndrome, sotos syndrome, sotos' syndrome

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    An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental [...]

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  603. Spastic ataxia spax

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  604. Spastic paraplegia spastic paraplegia, lower limb

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    Spasticity and weakness of the leg and hip muscles.; This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.

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  605. Spastic paraplegia type 7 spg7

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    A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, [...]

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  606. spinal muscular atrophy spinal muscular atrophy

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    Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is [...]

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  607. Spinal Muscular Atrophy Type 3 juvenile spinal muscular atrophy, kugelberg-welander disease, kugelberg-welander syndrome, spinal muscular atrophy iii, spinal muscular atrophy type 3

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    A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.

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  608. spinal muscular atrophy with lower extremity predominant spinal muscular atrophy with lower extremity predominance

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    A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.

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  609. spinocerebellar ataxia type 1

    An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.

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  610. Spinocerebellar Ataxia Type 1 sca1, spinocerebellar ataxia type 1

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    An autosomal dominant neurodegenerative disorder caused by mutations in the ATXN1 gene, encoding ataxin-1. It is characterized by progressive cerebellar ataxia, dysarthria and saccadic abnormalities.

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  611. Spinocerebellar ataxia type 1 sca1

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    Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.

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  612. Spinocerebellar Ataxia Type 12 sca12, spinocerebellar ataxia type 12

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    An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.

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  613. spinocerebellar ataxia type 17

    An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.

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  614. Spinocerebellar Ataxia Type 3 machado-joseph disease, sca3, spinocerebellar ataxia type 3

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    A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.

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  615. Spinocerebellar ataxia type 3 azorean disease of the nervous system, machado disease, machado-joseph disease, mjd, nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, sca3

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    Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.

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  616. Spinocerebellar Ataxia Type 6 sca6, spinocerebellar ataxia type 6

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    An autosomal recessive spinocerebellar ataxia caused by an expanded CAG repeat in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is an almost pure cerebellar syndrome, with onset typically between the ages of 20 to 60.

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  617. Spondyloepiphyseal dysplasia congenita congenital spondyloepiphyseal dysplasia, sedc, spranger-wiedemann disease

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    Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

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  618. Spontaneous Coronary Artery Dissection scad, spontaneous coronary artery dissection

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    The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.

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  619. sporadic amyotrophic lateral sclerosis sporadic amyotrophic lateral sclerosis

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    Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.

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  620. Stargardt disease fundus flavimaculatus, juvenile onset macular degeneration, stargardt 1, stargardt disease 1, stargardt macular dystrophy

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    Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

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  621. Stargardt Disease stargardt disease

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    An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision.

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  622. Stargardt disease fundus flavimaculatus, stargardt 1

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    A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

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  623. Steinert myotonic dystrophy myotonic dystrophy type 1, steinert disease

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    A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.

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  624. STING-associated vasculopathy with onset in infancy savi

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    STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in [...]

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  625. subcortical band heterotopia band heterotopia, double cortex syndrome, heco, heterotopic cortex, subcortical laminar heterotopia

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    A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.

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  626. Systemic Lupus Erythematosus sle, sle - lupus erythematosus, systemic, systemic lupus erythematosus, systemic lupus erythematosus, unspecified

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    An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.

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  627. systemic mastocytosis smcd - systemic mast cell disease, systemic tissue mast cell disease

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  628. Tay-Sachs disease gm2 gangliosidosis, type 1, hexosaminidase a deficiency

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    A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.

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  629. Telangiectasia, Hereditary Hemorrhagic

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  630. Temple-Baraitser syndrome severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome, tmbts

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    Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral [...]

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  631. TH-deficient dopa-responsive dystonia autosomal recessive dopa-responsive dystonia, autosomal recessive segawa syndrome, dopa responsive dystonia, autosomal recessive, dopa-responsive dystonia, autosomal recessive, dystonia, dopa responsive, autosomal recessive, dystonia, dopa-responsive, autosomal recessive, dyt5b, parkinsonism, infantile, autosomal recessive, segawa syndrome, autosomal recessive, segawa syndrome, recessive, tyrosine hydroxylase-deficient dopa-responsive dystonia

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    Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

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  632. Thalassemia sickle-cell thalassemia with crisis, sickle-cell thalassemia without crisis, thalassemia, thalassemia hb-s disease with crisis, thalassemia hb-s disease without crisis, α- and β-thalassemia

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    An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.

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  633. Tooth agenesis decreased number of teeth, decreased tooth count, dental agenesis, failure of development of some teeth, fewer teeth than normal, missing some teeth, reduced number of teeth, teeth, agenesis

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    The absence of one or more teeth from the normal series by a failure to develop; Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth.

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  634. Tourette Syndrome gilles de la tourette syndrome, tourette syndrome, tourette's syndrome

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    A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.

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  635. Transient Abnormal Myelopoiesis Associated with Down Syndrome tam, transient abnormal myelopoiesis, transient abnormal myelopoiesis (tam), transient abnormal myelopoiesis associated with down syndrome, transient myeloproliferative disorder

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    A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.

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  636. Transthyretin Amyloid Cardiomyopathy attr-cm, transthyretin amyloid cardiomyopathy

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    Cardiomyopathy resulting from the deposition of misfolded transthyretin. The condition can be classified by the presence (hereditary transthyretin amyloid) or absence (wild-type transthyretin amyloid) of mutation(s) in the TTR gene, encoding transthyretin.

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  637. transthyretin amyloidosis amyloidosis, hereditary, transthyretin-related, corino de andrade's disease, familial amyloid polyneuropathy, familial transthyretin amyloidosis, transthyretin-related hereditary amyloidosis, ttr amyloidosis

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    An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.; OMIM mapping confirmed by DO. [SN].

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  638. Transthyretin cardiac amyloidosis ttr cardiac amyloidosis

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    A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.

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  639. Trichothiodystrophy 1, Photosensitive trichothiodystrophy 1, photosensitive

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    An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.

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  640. Triploidy triploid, triploidy

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    A numerical chromosomal abnormality characterized by the presence of three complete sets of chromosomes.

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  641. Trisomy 21 trisomy 21, trisomy-21

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    A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells.

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  642. Tuberous Sclerosis bourneville's disease, tsc, tuberous sclerosis, tuberous sclerosis complex, tuberous sclerosis syndrome

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    Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.

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  643. Tuberous Sclerosis 2 tuberous sclerosis 2

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    Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).

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  644. Tuberous sclerosis complex bourneville syndrome, tuberous sclerosis

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    A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.

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  645. type 1 diabetes mellitus diabetes mellitis type 1, diabetes mellitis type i, iddm, immune mediated diabetes, insulin dependent diabetes, insulin-dependent diabetes mellitus, juvenile diabetes, type 1 diabetes, type i diabetes, type i diabetes mellitus

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    A chronic condition characterized by minimal or absent production of insulin by the pancreas.

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  646. Type 1 Diabetes Mellitus diabetes mellitus (type i), diabetes, type i, iddm, immune mediated diabetes, insulin dependent diabetes, insulin dependent diabetes mellitus, juvenile diabetes, type 1 diabetes, type 1 diabetes mellitus, type i diabetes, type i diabetes mellitus

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    A chronic condition characterized by minimal or absent production of insulin by the pancreas.

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  647. type 2 diabetes mellitus niddm, non-insulin-dependent diabetes mellitus, type 2 diabetes, type ii diabetes mellitus

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    A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.; Xref MGI. OMIM mapping confirmed by DO. [SN].

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  648. type 2 diabetes mellitus adult onset diabetes, adult-onset diabetes, diabetes mellitis type 2, diabetes mellitis type ii, diabetes mellitus, non-insulin-dependent, susceptibility to, diabetes mellitus, noninsulin-dependent, diabetes mellitus, noninsulin-dependent, 2, diabetes mellitus, noninsulin-dependent, association with, diabetes mellitus, noninsulin-dependent, late onset, diabetes mellitus, noninsulin-dependent, susceptibility to, diabetes mellitus, type 2, diabetes mellitus, type 2, protection against, diabetes mellitus, type 2, susceptibility to, diabetes mellitus, type ii, diabetes mellitus, type ii, susceptibility to, diabetes, type 2, hypertension, insulin resistance-related, susceptibility to, insulin resistance, severe, digenic, insulin resistance, susceptibility to, maturity-onset diabetes, niddm, non-insulin dependent diabetes, non-insulin dependent diabetes mellitus, non-insulin-dependent diabetes mellitus, noninsulin dependent diabetes, noninsulin-dependent diabetes mellitus, t2d, t2dm, t2dm - type 2 diabetes mellitus, type 2 diabetes, type 2 diabetes mellitus, type 2 diabetes mellitus non-insulin dependent, type 2 diabetes mellitus, susceptibility to, type ii diabetes, type ii diabetes mellitus

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    A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.

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  649. Tyrosine Hydroxylase Deficiency dystonia, dopa-responsive, autosomal recessive, parkinsonism, infantile, autosomal recessive, segawa syndrome, autosomal recessive, tyrosine hydroxylase deficiency

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    An autosomal recessive condition caused by mutation(s) in the TH gene, encoding tyrosine 3-monooxygenase. It is characterized by onset in infancy of dopa-responsive dystonia.

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  650. Tyrosinemia type 1 fah deficiency, fumarylacetoacetase deficiency, fumarylacetoacetate hydrolase deficiency, hepatorenal tyrosinemia, tyrosinemia type i

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    A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

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  651. Ullrich Congenital Muscular Dystrophy scleroatonic ullrich disease, ucmd, ullrich congenital muscular dystrophy

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    A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints.

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  652. Unipolar Depression major depression, major depressive disorder, unipolar depression

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    A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem [...]

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  653. unipolar depression depression, depression, emotional, depression, endogenous, depression, involutional, depression, neurotic, depression, unipolar, depressions, depressions, emotional, depressions, endogenous, depressions, neurotic, depressions, unipolar, depressive dis, depressive dis major, depressive disorder, depressive disorder, major, depressive disorders, depressive disorders, major, depressive neuroses, depressive neurosis, depressive symptom, depressive symptoms, depressive syndrome, depressive syndromes, disorder, depressive, disorder, major depressive, disorders, depressive, disorders, major depressive, emotional depression, emotional depressions, endogenous depression, endogenous depressions, involutional depression, involutional psychoses, involutional psychosis, major depression, major depressive dis, major depressive disorder, major depressive disorder 1, major depressive disorder 2, major depressive disorder and accelerated response to antidepressant drug treatment, major depressive disorder, response to citalopram therapy in, major depressive disorders, neuroses, depressive, neurosis, depressive, neurotic depression, neurotic depressions, paraphrenia, involutional, psychoses, involutional, psychosis, involutional, recurrent major depression, single major depressive episode, symptom, depressive, symptoms, depressive, syndrome, depressive, syndromes, depressive, unipolar depression, unipolar depression, susceptibility to, unipolar depressions

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    A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem [...]

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  654. USH2A

    Usher syndrome 2A (autosomal recessive, mild); Other designations: usher syndrome type IIa protein|usher syndrome type-2A protein|usherin

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  655. Usher syndrome

    A syndrome characterized by a combination of hearing loss and visual impairment.; Xref MGI. OMIM mapping confirmed by DO. [LS].

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  656. Usher Syndrome usher syndrome

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    A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.

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  657. Usher syndrome retinitis pigmentosa-deafness syndrome, retinitis pigmentosa-hearing loss syndrome, ush

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    A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.

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  658. Usher Syndrome Type 2 usher syndrome type 2

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    A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.

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  659. Van Maldergem syndrome 1

    A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.

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  660. Varicose Veins

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  661. Vascular Ehlers-Danlos syndrome arterial-ecchymotic eds, eds iv, ehlers-danlos syndrome type 4, sack-barabas syndrome, vascular eds, veds

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    A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.

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  662. VHL

    von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; Other designations: elongin binding protein|protein G7|von Hippel-Lindau disease tumor suppressor

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  663. Vici Syndrome vici syndrome, vicis

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    An autosomal recessive condition caused by mutation(s) in the EPG5 gene, encoding ectopic P granules protein 5 homolog. It is characterized by variable immunodeficiency, cleft lip/palate, cataracts, hypopigmentation, and absent corpus callosum.

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  664. von Hippel-Lindau disease hippel lindau syndrome, von hippel-lindau syndrome

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    OMIM mapping confirmed by DO. [LS].

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  665. Von Hippel-Lindau Disease Tumor Suppressor elongin binding protein, g7 protein, protein g7, pvhl, vhl, vhl protein, von hippel lindau tumor suppressor protein, von hippel-lindau disease tumor suppressor

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    Von Hippel-Lindau disease tumor suppressor (213 aa, ~24 kDa) is encoded by the human VHL gene. This protein plays a role in protein ubiquitination and regulation of protein degradation.

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  666. Waardenburg Syndrome waardenburg syndrome, waardenburg's syndrome

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    A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.

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    Associated cell lines:
  667. Waardenburg syndrome

    Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

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  668. Waardenburg Syndrome Type 1 waardenburg syndrome type 1, waardenburg syndrome type i

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    A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.

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  669. Waardenburg Syndrome Type 2 waardenburg syndrome type 2, waardenburg syndrome type ii

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    A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum.

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  670. Waardenburg syndrome type 4C waardenburg syndrome type ivc, waardenburg syndrome with hirschsprung disease type 4c, ws4c

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    A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.

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  671. Walker-Warburg syndrome cerebroocular dysplasia-muscular dystrophy syndrome, hard syndrome

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    A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.; OMIM mapping confirmed by DO. [SN].

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  672. Weaver Syndrome weaver syndrome, weaver-smith syndrome, wvs

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    A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.

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  673. Werner Syndrome adult progeria, werner syndrome, werner's syndrome, ws

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    A rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer.

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  674. Williams Syndrome williams syndrome, williams-beuren syndrome, williams-beuren syndrome (wbs)

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    A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.

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  675. Williams syndrome deletion 7q11.23, monosomy 7q11.23, williams-beuren syndrome

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    A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, [...]

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  676. Williams-Beuren syndrome fanconi schlesinger syndrome

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    A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.; OMIM mapping confirmed by DO. [LS].

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  677. Wilson disease hepatolenticular degeneration

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    A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.

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  678. Wolfram Syndrome diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome, didmoad, wolfram syndrome

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    A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

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  679. Wolfram syndrome 1 diabetes insipidus and mellitus with optic atrophy and deafness, wfs, wfs1, wfs1 wolfram syndrome, wolfram syndrome 1, wolfram syndrome caused by mutation in wfs1, wolfram syndrome type 1

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    Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.

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  680. X-linked adrenoleukodystrophy ald, x-ald, x-linked ald

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    A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.

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  681. X-linked Alport syndrome alport syndrome 1, x-linked, x-linked dominant, alport syndrome, x-linked, ats, congenital hereditary hematuria, hemorrhagic familial nephritis, hemorrhagic hereditary nephritis, nephropathy and deafness, x-linked, x-linked alport syndrome

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    X-linked form of Alport syndrome.

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  682. X-Linked Centronuclear Myopathy cnmx, mtm, mtm1, myotubular myopathy 1, x-linked centronuclear myopathy, x-linked myotubular myopathy, xlcnm

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    An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild [...]

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  683. X-linked creatine transporter deficiency creatine transporter deficiency, slc6a8 deficiency

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    X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

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  684. X-Linked Dominant Hypophosphatemic Rickets hereditary 1,25(oh)2d-resistant rickets, hypophosphatemic vitamin d-resistant rickets, vitamin d-resistant rickets, x-linked dominant hypophosphatemic rickets, x-linked hypophosphatemia, x-linked hypophosphatemic rickets

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    An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.

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  685. X-linked intellectual disability, Nascimento type x-linked intellectual disability-nail dystrophy-seizures syndrome

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    X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, [...]

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  686. X-linked myopathy with excessive autophagy xmea

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    A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.

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  687. X-linked retinoschisis x-linked juvenile retinoschisis, xlrs

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    A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.

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  688. X-linked spondyloepimetaphyseal dysplasia

    A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

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  689. Xia-Gibbs Syndrome autosomal dominant mental retardation 25, mrd25

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    An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.

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  690. Young-onset Parkinson disease early-onset parkinson disease, yopd

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    A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.

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