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. Acne acne, acne vulgaris

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    An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.

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  9. Acromesomelic dysplasia

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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. African Swine Fever Virus

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  19. 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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  20. 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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  21. 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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  22. Aicardi-Goutieres syndrome ags, 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. alpha thalassemia spectrum a-thalassemia, alpha thalassaemia, alpha thalassemia spectrum, alpha-thalassemia, alpha-thalassemia trait, thalassemia, alpha-, thalassemias, alpha-

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    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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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  49. 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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  50. 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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  51. anti-social behavior

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  52. Aortic Dilatation aortic dilatation, aortic dilation

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    A pathologic widening of the aortic lumen. It is often associated with hypertensive vascular disease and may progress to dissection and rupture.

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  53. 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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  54. 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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  55. 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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  56. 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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  57. 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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  58. 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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  59. 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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  60. 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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  61. 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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  62. 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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  63. 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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  64. 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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  65. Asthma asthma, bronchial asthma, reactive airway disease

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    Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.

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  66. 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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  67. 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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  68. atrial fibrillation a-fib, afib

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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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  69. 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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  70. 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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  71. 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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  72. 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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  73. 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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  74. 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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  75. 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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  76. 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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  77. 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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  78. Autism Spectrum Disorder

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  79. 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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  80. 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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  81. 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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  82. 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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  83. 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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  84. 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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  85. 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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  86. 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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  87. 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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  88. 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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  89. 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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  90. 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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  91. 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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  92. 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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  93. 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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  94. 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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  95. 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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  96. azoospermia

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

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  97. 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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  98. 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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  99. 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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  100. 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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  101. 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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  102. 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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  103. 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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  104. 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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  105. 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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  106. 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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  107. 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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  108. 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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  109. 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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  110. 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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  111. 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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  112. 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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  113. 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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  114. 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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  115. 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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  116. 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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  117. Brugada Syndrome brugada syndrome, right bundle branch block, st segment elevation, and sudden death syndrome

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    A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.

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  118. 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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  119. 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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  120. 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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  121. 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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  122. CAPRIN1

    cell cycle associated protein 1; Other designations: GPI-anchored membrane protein 1|GPI-anchored protein p137|GPI-p137|RNA granule protein 105|activation/proliferation-associated protein 1|caprin 1|caprin-1|cell cycle-associated protein 1|cytoplasmic activation- and proliferation-associated protein 1|cytoplasmic activation/proliferation-associated protein-1|membrane component chromosome 11 surface marker 1|membrane component, chromosome 11, [...]

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  123. 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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  124. 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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  125. cardiac valvular defect

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  126. 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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  127. 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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  128. 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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  129. 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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  130. 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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  131. 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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  132. 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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  133. CELF2

    CUGBP, Elav-like family member 2

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  134. 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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  135. 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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  136. 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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  137. 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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  138. 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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  139. 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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  140. cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1, creatine transporter deficiency, 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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  141. 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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  142. 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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  143. 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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    Associated cell lines:
  144. 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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  145. 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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  146. 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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  147. 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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  148. 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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  149. Chemically Induced Cardiotoxicity chemically induced cardiac toxicity, chemically induced cardiotoxicity, toxicity, chemically induced cardiac

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    Damage or injury to the heart caused by a chemical agent.

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  150. 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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  151. 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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  152. 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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  153. chromosomal disease

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

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  154. 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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  155. 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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  156. 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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  157. 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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  158. 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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  159. 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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  160. 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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  161. Classic glucose transporter type 1 deficiency syndrome classic glut1 deficiency syndrome, classic glut1-ds, de vivo disease, encephalopathy due to glut1 deficiency

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    A rare inborn error of metabolism characterized by encephalopathy due to impaired glucose transport into neural cells. The most frequent clinical manifestations are epilepsy, intellectual disability and movement disorder.

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  162. CLN5

    ceroid-lipofuscinosis, neuronal 5

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  163. 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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  164. 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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  165. 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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  166. 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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  167. 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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  168. 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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  169. 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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  170. 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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  171. Congenital Cataract congenital cataract

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    Cataract that is present at birth.

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  172. 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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  173. 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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  174. 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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  175. 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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  176. 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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  177. 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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  178. 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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  179. 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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  180. Congenital Myotonic Dystrophy congenital myotonic dystrophy

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    Myotonic dystrophy that is present at birth.

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  181. copper ion binding copper binding, copper/cadmium binding

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    Binding to a copper (Cu) ion.

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  182. 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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  183. 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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  184. 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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  185. 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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  186. 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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  187. 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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  188. 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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  189. 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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  190. 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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  191. 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

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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.; Reason: duplicate. This will be merged with MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type

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  192. 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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  193. 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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  194. 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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  195. 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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  196. 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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  197. 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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  198. 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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  199. 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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  200. 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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  201. developmental and epileptic encephalopathy 7 early infantile epileptic encephalopathy 7, kcnq2-related epileptic encephalopathy, kcnq2-related neonatal epileptic encephalopathy

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    A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.

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  202. Developmental and Epileptic Encephalopathy 7 dee7, developmental and epileptic encephalopathy 7, eiee7, epileptic encephalopathy, early infantile, 7

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    An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNQ2 gene, encoding potassium voltage-gated channel subfamily KQT member 2.

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  203. 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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  204. 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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  205. 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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  206. developmental and epileptic encephalopathy, 7 dee7, developmental and epileptic encephalopathy 7, eiee7, epileptic encephalopathy, early infantile, 7, epileptic encephalopathy, early infantile, type 7, kcnq2-nee, kcnq2-related disorders, kcnq2-related epileptic encephalopathy, kcnq2-related neonatal epileptic encephalopathy

    Show synonyms

    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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  207. Developmental Delay delayed developmental milestones, developmental delay

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    Failure to meet, or late achievement of developmental milestones.

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  208. 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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  209. diabetes mellitus diabetes, diabetes mellitus, diabetes mellitus (disease), diabetes mellitus (disorder), diabetes mellitus, nos, diabetes nos, dm, dm - diabetes mellitus

    Show synonyms

    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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  210. 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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    Associated cell lines:
  211. 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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  212. 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, 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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  213. 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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  214. 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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  215. 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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  216. 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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  217. 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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  218. 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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  219. 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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  220. 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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  221. 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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  222. 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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  223. 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:
  224. 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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  225. 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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  226. 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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  227. 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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  228. 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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  229. 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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  230. 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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  231. 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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  232. 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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  233. 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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  234. 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:
  235. 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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  236. dyskinesia with orofacial involvement

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  237. 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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  238. 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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  239. Ehlers-Danlos syndrome, vascular type eds iv, eds iv (formerly), eds type 4, eds type 4 (formerly), eds4 (formerly), ehlers danlos syndrome, arterial type, ehlers danlos syndrome, ecchymotic type, ehlers danlos syndrome, sack-barabas type, ehlers-danlos syndrome type 4, ehlers-danlos syndrome type 4 (formerly), ehlers-danlos syndrome type iv, ehlers-danlos syndrome type iv (formerly), ehlers-danlos syndrome, type iv, ehlers-danlos syndrome, vascular type, sack-barabas syndrome, vascular eds, vascular ehlers-danlos syndrome, veds

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    Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

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  240. 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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  241. 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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  242. 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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  243. 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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  244. 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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  245. 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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  246. 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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  247. 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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  248. 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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  249. 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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  250. epilepsy epilepsy, seizure 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.

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  251. 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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  252. 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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  253. 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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  254. Fabry disease alpha galactosidase deficiency, alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, deficiency of melibiase, fabry disease, cardiac variant, 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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  255. 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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  256. 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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  257. 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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  258. 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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  259. 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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  260. 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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  261. 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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  262. 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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  263. 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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  264. familial hypercholesterolemia familial hyperbetalipoproteinaemia, familial hypercholesteremia, 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.; Editor note: TODO check xrefs

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  265. 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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  266. familial long QT syndrome congenital long qt syndrome, familial long qt syndrome, hereditary long qt syndrome, 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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  267. 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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  268. familial Mediterranean fever benign paroxysmal peritonitis, fmf

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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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  269. 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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  270. 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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  271. 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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  272. 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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  273. 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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  274. 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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  275. 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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  276. 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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  277. 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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  278. 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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  279. 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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  280. 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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  281. 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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  282. 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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  283. Floating-Harbor syndrome fhs, flhs, floating harbor syndrome, 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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  284. 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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  285. 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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  286. 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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  287. Fontan Procedure

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  288. 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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  289. 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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  290. 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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  291. 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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  292. 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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  293. 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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  294. 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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  295. 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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  296. Gastritis gastritis

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    Inflammation of the stomach.

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  297. 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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  298. 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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  299. 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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  300. 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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  301. Generalized Epilepsy generalized epilepsy

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    A chronic condition characterized by recurrent generalized seizures.

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  302. 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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  303. Glioma glial neoplasm, glial tumor, glioma, glioma, nos, neoplasm of neuroglia, neoplasm of the neuroglia, neuroglial neoplasm, neuroglial tumor, tumor of neuroglia, tumor of the neuroglia

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    A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.

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  304. 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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  305. 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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  306. Glutaric Acidemia Type 1 glutaric acidemia type 1, glutaric aciduria, type 1

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    A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.

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  307. 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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  308. 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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  309. 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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  310. 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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  311. 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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  312. GM1 Gangliosidosis gm1 gangliosidosis

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    An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas.

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  313. 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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  314. 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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  315. 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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  316. Haploinsufficiency

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  317. Healthy healthy, well

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    Having no significant health-related issues.

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  318. 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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  319. 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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  320. 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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  321. 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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  322. Heart Failure

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  323. 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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  324. Hemoglobin E-beta-thalassemia syndrome e-beta-thalassemia, hbe-beta-thalassemia syndrome

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    Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).