Diseases associated to hPSCreg cell lines
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47,XXX Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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4H leukodystrophy
Show synonymsOntology Lookup ServiceA 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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6q27
Show synonymsOntology Lookup ServiceA chromosome band present on 6q
Associated cell lines:
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7q11.23 microduplication syndrome
Show synonymsOntology Lookup Service7q11.23 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 [...]
Associated cell lines:
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aceruloplasminemia
Show synonymsOntology Lookup ServiceAn adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Associated cell lines:
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achromatopsia
Show synonymsOntology Lookup ServiceAchromatopsia (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
Associated cell lines:
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Achromatopsia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Acne
Show synonymsOntology Lookup ServiceAn inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.
Associated cell lines:
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Acromesomelic dysplasia
Ontology Lookup ServiceAssociated cell lines:
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Activated PI3K-delta syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Acute lymphoblastic leukemia
Show synonymsOntology Lookup ServiceA form of acute leukemia characterized by excess lympoblasts.
Associated cell lines:
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Acute myeloid leukemia
Show synonymsOntology Lookup ServiceA form of leukemia characterized by overproduction of an early myeloid cell.
Associated cell lines:
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acute promyelocytic leukemia
Show synonymsOntology Lookup ServiceAcute 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 [...]
Associated cell lines:
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ADNP syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Show synonymsOntology Lookup ServiceAn autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
Associated cell lines:
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Adrenoleukodystrophy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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African Swine Fever Virus
Ontology Lookup ServiceAssociated cell lines:
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age-related macular degeneration
Show synonymsOntology Lookup ServiceAge-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
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Age-Related Macular Degeneration
Show synonymsOntology Lookup ServiceAge-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
Associated cell lines:
- CABi003-A
- CIRMi271-A
- CIRMi272-A
- CIRMi273-A
- CIRMi274-A
- CIRMi275-A
- CIRMi276-A
- CIRMi277-A
- CIRMi278-A
- CIRMi284-A
- CIRMi295-A
- CIRMi296-A
- CIRMi298-A
- CIRMi300-A
- CIRMi302-A
- CIRMi305-A
- CIRMi308-A
- CIRMi310-A
- CIRMi316-A
- CIRMi317-A
- CIRMi322-A
- CIRMi324-A
- CIRMi325-A
- CIRMi326-A
- CIRMi327-A
- CIRMi328-A
- CIRMi333-A
- CIRMi336-A
- CIRMi338-A
- CIRMi340-A
- CIRMi341-A
- CIRMi342-A
- CIRMi343-A
- CIRMi344-A
- CIRMi346-A
- CIRMi347-A
- CIRMi348-A
- CIRMi349-A
- CIRMi350-A
- CIRMi352-A
- CIRMi353-A
- CIRMi354-A
- CIRMi355-A
- CIRMi356-A
- CIRMi358-A
- CIRMi359-A
- CIRMi360-A
- CIRMi362-A
- CIRMi363-A
- CIRMi364-A
- CIRMi365-A
- CIRMi366-A
- CIRMi367-A
- CIRMi368-A
- CIRMi369-A
- CIRMi370-A
- CIRMi371-A
- CIRMi372-A
- CIRMi374-A
- CIRMi375-A
- CIRMi376-A
- CIRMi377-A
- CIRMi378-A
- CIRMi381-A
- CIRMi382-A
- CIRMi383-A
- CIRMi384-A
- CIRMi385-A
- CIRMi394-A
- CIRMi396-A
- CIRMi397-A
- CIRMi399-A
- CIRMi401-A
- CIRMi403-A
- CIRMi408-A
- CIRMi409-A
- CIRMi411-A
- CIRMi413-A
- CIRMi417-A
- CIRMi420-A
- CIRMi422-A
- CIRMi423-A
- CIRMi424-A
- CIRMi425-A
- CIRMi426-A
- CIRMi427-A
- CIRMi428-A
- CIRMi432-A
- CIRMi433-A
- CIRMi435-A
- CIRMi436-A
- CIRMi439-A
- CIRMi441-A
- CIRMi442-A
- CIRMi443-A
- CIRMi444-A
- CIRMi445-A
- CIRMi446-A
- CIRMi447-A
- CIRMi457-A
- CIRMi462-A
- CIRMi469-A
- CIRMi479-A
- CIRMi480-A
- CIRMi481-A
- CIRMi482-A
- CIRMi483-A
- CIRMi506-A
- CIRMi509-A
- CIRMi512-A
- CIRMi514-A
- CIRMi530-A
- CIRMi534-A
- CIRMi541-A
- RFSCi002-A
- RFSCi004-A
- SCTCi014-A
- SCTCi014-A-1
- SCTCi015-A
- SCTCi015-A-1
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age-related macular degeneration
Show synonymsOntology Lookup ServiceAge-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.
Associated cell lines:
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Aicardi-Goutieres syndrome
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Aicardi-Goutieres Syndrome 1
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Aicardi-Goutieres Syndrome 5
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Alagille syndrome
Show synonymsOntology Lookup ServiceAlagille (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 [...]
Associated cell lines:
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Alagille Syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Allan-Herndon-Dudley Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Allan-Herndon-Dudley syndrome
Show synonymsOntology Lookup ServiceA rare X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Associated cell lines:
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alpha 1-antitrypsin deficiency
Show synonymsOntology Lookup ServiceAlpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
Associated cell lines:
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alpha thalassemia spectrum
Show synonymsOntology Lookup ServiceAn inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
Associated cell lines:
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Alpha-1 Antitrypsin Deficiency
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Alpha-1-antitrypsin deficiency
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Alport Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Alport syndrome
Show synonymsOntology Lookup ServiceA 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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Alzheimer disease
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
- HEBHMUi014-A
- IRMBi005-A
- LBi001-A
- LBi001-B
- LBi002-A
- LBi002-B
- LBi003-A
- LBi003-B
- LBi004-A
- LBi004-B
- LBi005-A
- LBi005-B
- LBi006-A
- LBi006-B
- LBi007-A
- LBi007-B
- LBi008-A
- LBi008-B
- LBi009-A
- LBi009-B
- LBi010-A
- LBi010-B
- LBi011-A
- LBi011-B
- LBi012-A
- LBi012-B
- LBi013-A
- LBi014-A
- LBi014-B
- LBi015-A
- LBi015-B
- LBi016-A
- LBi016-B
- LBi017-A
- LBi017-B
- LBi018-A
- LBi018-B
- LBi019-A
- LBi019-B
- LBi020-A
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Alzheimer disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- BIONi010-C-17
- BIONi010-C-2
- BIONi010-C-25
- BIONi010-C-3
- BIONi010-C-4
- BIONi010-C-5
- BIONi010-C-6
- BIONi010-C-7
- BIONi010-C-8
- BIONi010-C-9
- BIONi037-A-1
- BIONi037-A-2
- BIONi037-A-3
- BIONi037-A-4
- BIOTi003-A
- CSBZZUi001-A
- GEMi011-A-1
- GEMi022-A-1
- GEMi022-A-2
- HMGUi001-A-44
- HMSCATi009-A
- MLUi007-J
- PUMCi006-A
- SIGi001-A-13
- SPPHIi004-A
- STBCi006-A
- STBCi006-A-1
- STBCi006-A-3
- STBCi006-A-4
- STBCi009-A
- STBCi009-B
- STBCi009-C
- STBCi010-A
- STBCi011-A
- STBCi011-B
- STBCi011-C
- STBCi012-A
- STBCi012-B
- STBCi012-C
- STBCi013-A
- STBCi013-B
- STBCi014-A
- STBCi014-B
- STBCi014-C
- STBCi015-A
- STBCi015-B
- STBCi015-C
- STBCi016-A
- STBCi016-B
- STBCi016-C
- STBCi032-A
- STBCi032-B
- STBCi045-A
- STBCi045-B
- STBCi045-C
- STBCi047-A
- STBCi047-B
- STBCi051-A
- STBCi051-B
- STBCi051-C
- STBCi061-A
- STBCi062-A
- STBCi065-A
- STBCi071-A
- STBCi071-B
- STBCi071-C
- STBCi072-A
- STBCi072-B
- STBCi072-C
- STBCi077-A
- STBCi077-B
- STBCi077-C
- STBCi097-A
- STBCi097-B
- STBCi097-C
- STBCi099-A
- STBCi099-B
- STBCi134-A
- STBCi143-A
- STBCi254-A
- STBCi256-A
- STBCi264-A
- STBCi269-A
- STBCi270-A
- STBCi271-A
- STBCi272-A
- STBCi273-A
- STBCi274-A
- STBCi275-A
- STBCi276-A
- STBCi277-A
- STBCi284-A
- STBCi285-A
- STBCi286-A
- STBCi287-A
- STBCi299-A
- STBCi300-A
- STBCi301-A
- STBCi302-A
- STBCi312-A
- STBCi313-A
- STBCi314-A
- STBCi315-A
- UKBi011-A
- UKBi011-A-1
- UKBi011-A-2
- UKBi011-A-3
- UKBi011-A-4
- UMi038-A
- UMi038-A-1
- UMi050-A
- UMi050-B
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Alzheimer disease 3
Show synonymsOntology Lookup ServiceAlzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.
Associated cell lines:
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Alzheimer disease 4
Show synonymsOntology Lookup ServiceAlzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
Associated cell lines:
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Alzheimer disease type 1
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Alzheimer's disease
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Alzheimer's Disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- BBSSPAi002-A
- BIONi010-C-70
- BIONi010-C-71
- BIONi010-C-72
- HEBHMUi013-A
- HMSCATi005-A
- IBTCMi003-A
- IBTCMi004-A
- IBTCMi005-A
- KEIOi005-A
- MUNIi011-A
- MUNIi012-A
- MUNIi013-A
- MUNIi021-A
- NYSCFi003-A
- PNUYHi002-A
- SIAISi006-A
- SIAISi007-A
- SIAISi016-A
- SJTUi003-A
- TUSMi007-A
- TUSMi008-A
- UGOTSAi002-B
- UGOTSAi003-A
- UGOTSAi003-B
- UGOTSAi004-A
- UGOTSAi004-B
- UGOTSAi006-A
- UMi039-A
- UMi039-A-1
- UMi041-A
- UMi042-A
- UMi042-A-1
- UMi043-A
- UTHSCHi001-A
- XWHNi001-A
- XWHNi003-A
- ZZUi024-A
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Amyloidosis
Ontology Lookup ServiceAssociated cell lines:
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amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceA 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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Amyotrophic Lateral Sclerosis
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- CBIGi001-A-19
- CBIGi001-A-22
- CBIGi001-A-23
- CBIGi001-A-31
- CBIGi001-A-37
- CBIGi001-A-38
- CBIGi001-A-7
- CBIGi010-A
- CBIGi011-A
- CBIGi014-A
- CBIGi020-A
- CBIGi022-A
- CBIGi022-A-1
- CBIGi023-A
- CBIGi024-A
- CBIGi025-A
- CBIGi038-A
- CBIGi043-A
- CBIGi047-A
- CBIGi048-A
- CBIGi049-A
- IAIi006-A
- IAIi007-A
- IAIi008-A
- ICGi022-A-1
- ICGi022-A-2
- INNDSUi009-A
- MNDi002-A
- MNDi003-A
- MNDi004-A
- MNDi005-A
- NIMHi008-A
- SMUSHi006-A
- UCSCi001-A
- UCSFi001-A-72
- UCSFi001-A-73
- UCSFi001-A-74
- UCSFi001-A-75
- UQi001-A-1
- UQi006-A
- UQi007-A
- UQi008-A
- UQi009-A
- WTSIi018-B-18
- WTSIi018-B-21
- WTSIi018-B-22
- WTSIi018-B-23
- WTSIi018-B-24
- WTSIi018-B-25
- WTSIi018-B-26
- WTSIi018-B-27
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Amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceA neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Associated cell lines:
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Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia
Show synonymsOntology Lookup ServiceAn autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43.
Associated cell lines:
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amyotrophic lateral sclerosis type 10
Show synonymsOntology Lookup ServiceAn amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.
Associated cell lines:
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Androgen insensitivity syndrome
Show synonymsOntology Lookup ServiceA rare difference 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).
Associated cell lines:
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anemia
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Anencephaly
Show synonymsOntology Lookup ServiceA rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
Associated cell lines:
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Aneuploidy
Show synonymsOntology Lookup ServiceA chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24).
Associated cell lines:
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Angelman Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Aniridia
Show synonymsOntology Lookup ServiceA rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.
Associated cell lines:
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Ankylosing Spondylitis
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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ankylosing spondylitis
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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anterior segment dysgenesis 8
Show synonymsOntology Lookup ServiceAny anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.
Associated cell lines:
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anti-social behavior
Ontology Lookup Service -
Aortic Dilatation
Show synonymsOntology Lookup ServiceA pathologic widening of the aortic lumen. It is often associated with hypertensive vascular disease and may progress to dissection and rupture.
Associated cell lines:
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Aortic Dissection
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Aortic root aneurysm
Show synonymsOntology Lookup ServiceAn abnormal localized widening (dilatation) of the aortic root.
Associated cell lines:
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aortic valve stenosis
Show synonymsOntology Lookup ServiceAn aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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aplastic anemia
Ontology Lookup ServiceAnemia 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.
Associated cell lines:
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Argininosuccinic Aciduria
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Arrhythmia
Show synonymsOntology Lookup ServiceAny variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.
Associated cell lines:
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arrhythmogenic right ventricular cardiomyopathy
Show synonymsOntology Lookup ServiceAn 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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arrhythmogenic right ventricular cardiomyopathy
Show synonymsOntology Lookup ServiceArrhythmogenic 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.
Associated cell lines:
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Arrhythmogenic Right Ventricular Dysplasia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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arrhythmogenic right ventricular dysplasia 5
Show synonymsOntology Lookup ServiceAn arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.
Associated cell lines:
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arrhythmogenic right ventricular dysplasia 5
Show synonymsOntology Lookup ServiceAny arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.
Associated cell lines:
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arrhythmogenic right ventricular dysplasia 9
Show synonymsOntology Lookup ServiceAn arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11.
Associated cell lines:
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arrhythmogenic right ventricular dysplasia 9
Show synonymsOntology Lookup ServiceAny familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.
Associated cell lines:
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Arterial calcification
Ontology Lookup ServicePathological 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, [...]
Associated cell lines:
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Asthma
Show synonymsOntology Lookup ServiceAsthma 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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Ataxia Telangiectasia Syndrome
Show synonymsOntology Lookup ServiceRare 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.
Associated cell lines:
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atopic eczema
Show synonymsOntology Lookup ServiceA 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.; A common chronic pruritic inflammatory [...]
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atrial fibrillation
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Atrial Fibrillation
Show synonymsOntology Lookup ServiceA 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)
Associated cell lines:
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atrioventricular block
Show synonymsOntology Lookup ServiceA heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
Associated cell lines:
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Attention Deficit Hyperactivity Disorder
Show synonymsOntology Lookup ServiceA 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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attention deficit hyperactivity disorder
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Auditory Neuropathy Spectrum Disorder
Show synonymsOntology Lookup ServiceA hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.
Associated cell lines:
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Autism
Show synonymsOntology Lookup ServiceAutism 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 [...]
Associated cell lines:
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Autism
Show synonymsOntology Lookup ServiceA 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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autism spectrum disorder
Ontology Lookup ServiceA 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.
Associated cell lines:
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Autism Spectrum Disorder
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- CIRMi13W-A
- CIRMi13X-A
- CIRMi13Y-A
- CIRMi13Z-A
- CIRMi14A-A
- CIRMi14C-A
- CIRMi14D-A
- CIRMi14G-A
- CIRMi14I-A
- CIRMi14J-A
- CIRMi14L-A
- CIRMi14M-A
- CIRMi14N-A
- CIRMi14Q-A
- CIRMi14R-A
- CIRMi14S-A
- CIRMi14U-A
- CIRMi14W-A
- CIRMi14X-A
- CIRMi15B-A
- CIRMi15E-A
- CIRMi15F-A
- CIRMi15G-A
- CIRMi15L-A
- CIRMi15N-A
- CIRMi15Q-A
- CIRMi15U-A
- CIRMi15Z-A
- CIRMi16A-A
- CIRMi16G-A
- CIRMi16I-A
- CIRMi16L-A
- CIRMi16M-A
- CIRMi17A-A
- CIRMi17D-A
- CIRMi17E-A
- CIRMi17L-A
- CIRMi17P-A
- CIRMi17Q-A
- CIRMi17R-A
- CIRMi17V-A
- CIRMi17W-A
- CIRMi17X-A
- CIRMi17Y-A
- CIRMi17Z-A
- CIRMi18A-A
- CIRMi18C-A
- CIRMi18G-A
- CIRMi18H-A
- CIRMi18J-A
- CIRMi18K-A
- CIRMi18L-A
- CIRMi18M-A
- CIRMi18N-A
- CIRMi18P-A
- CIRMi18S-A
- CIRMi18T-A
- CIRMi18U-A
- CIRMi18V-A
- CIRMi18W-A
- CIRMi18X-A
- CIRMi18Y-A
- CIRMi19A-A
- CIRMi19C-A
- CIRMi19D-A
- CIRMi19E-A
- CIRMi19F-A
- CIRMi19G-A
- CIRMi19H-A
- CIRMi19I-A
- CIRMi19K-A
- CIRMi19N-A
- CIRMi19O-A
- CIRMi19Q-A
- CIRMi19R-A
- CIRMi19S-A
- CIRMi19Y-A
- CIRMi19Z-A
- CIRMi20C-A
- CIRMi20D-A
- CIRMi20G-A
- IBKMOLi002-A
- ICGi058-A
- NUIGi033-A
- QBRIi023-A
- QBRIi023-B
- QBRIi024-A
- QBRIi024-B
- QBRIi025-A
- QBRIi025-B
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Autism Spectrum Disorder
Ontology Lookup Service -
autism spectrum disorder
Show synonymsOntology Lookup ServiceA 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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Autism spectrum disorder due to AUTS2 deficiency
Show synonymsOntology Lookup ServiceA rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal [...]
Associated cell lines:
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autoimmune encephalitis
Show synonymsOntology Lookup ServiceInflammation of the brain secondary to an immune response triggered by the body itself.
Associated cell lines:
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autoimmune interstitial lung, joint, and kidney disease
Show synonymsOntology Lookup ServiceA syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
Associated cell lines:
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autosomal dominant cerebellar ataxia
Show synonymsOntology Lookup ServiceA cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
Associated cell lines:
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autosomal dominant nonsyndromic deafness 58
Show synonymsOntology Lookup ServiceAn autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12.
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Autosomal Dominant Optic Atrophy
Show synonymsOntology Lookup ServiceAn autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
Associated cell lines:
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Autosomal dominant optic atrophy plus syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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autosomal dominant Parkinson disease 1
Show synonymsOntology Lookup ServiceEditor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation
Associated cell lines:
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Autosomal Dominant Polycystic Kidney Disease
Show synonymsOntology Lookup ServicePolycystic 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.
Associated cell lines:
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Autosomal dominant polycystic kidney disease
Show synonymsOntology Lookup ServiceAutosomal dominant form of polycystic kidney disease.
Associated cell lines:
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Autosomal dominant spastic paraplegia type 10
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Autosomal dominant spastic paraplegia type 4
Show synonymsOntology Lookup ServiceA rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional [...]
Associated cell lines:
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Autosomal Dominant Torsion Dystonia 1
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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autosomal recessive cutis laxa type IID
Show synonymsOntology Lookup ServiceAn autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Associated cell lines:
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autosomal recessive juvenile Parkinson disease 2
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Autosomal recessive malignant osteopetrosis
Show synonymsOntology Lookup ServiceA rare congenital disorder of bone resorption characterized by generalized skeletal densification.
Associated cell lines:
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autosomal recessive nonsyndromic deafness 12
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Autosomal Recessive Osteopetrosis
Show synonymsOntology Lookup ServiceAn 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 [...]
Associated cell lines:
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autosomal recessive osteopetrosis 4
Show synonymsOntology Lookup ServiceAn osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
Associated cell lines:
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autosomal recessive Parkinson disease 14
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Autosomal Recessive Polycystic Kidney Disease
Show synonymsOntology Lookup ServicePolycystic 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.
Associated cell lines:
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Show synonymsOntology Lookup ServiceA rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy.
Associated cell lines:
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azoospermia
Ontology Lookup ServiceA male infertility disease characterized by the absence of any measurable level of sperm in semen.
Associated cell lines:
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Azoospermia
Show synonymsOntology Lookup ServiceComplete absence of spermatozoa in the semen.
Associated cell lines:
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Baraitser-Winter syndrome 1
Ontology Lookup Service(BRWS1) - A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.
Associated cell lines:
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Bardet-Biedl Syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Bardet-Biedl syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- WTSIi033-A
- WTSIi034-A
- WTSIi035-A
- WTSIi036-A
- WTSIi147-A
- WTSIi148-A
- WTSIi149-A
- WTSIi150-A
- WTSIi151-A
- WTSIi152-A
- WTSIi153-A
- WTSIi154-A
- WTSIi155-A
- WTSIi156-A
- WTSIi157-A
- WTSIi158-A
- WTSIi159-A
- WTSIi160-A
- WTSIi161-A
- WTSIi162-A
- WTSIi163-A
- WTSIi164-A
- WTSIi165-A
- WTSIi166-A
- WTSIi167-A
- WTSIi399-A
- WTSIi399-B
- WTSIi402-A
- WTSIi402-B
- WTSIi403-A
- WTSIi403-B
- WTSIi405-A
- WTSIi405-B
- WTSIi406-A
- WTSIi407-A
- WTSIi407-B
- WTSIi414-A
- WTSIi414-B
- WTSIi415-A
- WTSIi415-B
- WTSIi419-A
- WTSIi420-A
- WTSIi420-B
- WTSIi422-A
- WTSIi422-B
- WTSIi426-A
- WTSIi452-A
- WTSIi452-B
- WTSIi457-A
- WTSIi457-B
- WTSIi458-A
- WTSIi458-B
- WTSIi465-A
- WTSIi465-B
- WTSIi478-A
- WTSIi485-A
- WTSIi485-B
- WTSIi495-A
- WTSIi495-B
- WTSIi573-A
- WTSIi573-B
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Barth Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Becker muscular dystrophy
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Becker muscular dystrophy
Show synonymsOntology Lookup ServiceBecker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Becker muscular dystrophy
Show synonymsOntology Lookup ServiceA rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Behavioral variant of frontotemporal dementia
Show synonymsOntology Lookup ServiceBehavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
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bestrophinopathy
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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beta thalassemia
Ontology Lookup ServiceA thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Beta-propeller protein-associated neurodegeneration
Show synonymsOntology Lookup ServiceBeta-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.
Associated cell lines:
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Beta-thalassemia
Ontology Lookup ServiceBeta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
Associated cell lines:
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Bicuspid Aortic Valve
Show synonymsOntology Lookup ServiceA genetically heterogenous congenital anomaly in which the aortic valve has two leaflets. It affects 1-2 percent of the population. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.
Associated cell lines:
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Bilateral Frontoparietal Polymicrogyria
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Bilateral striopallidodentate calcinosis
Show synonymsOntology Lookup ServiceBilateral 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.
Associated cell lines:
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Biotin-thiamine-responsive basal ganglia disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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bipolar disorder
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- EDi010-A
- EDi010-B
- EDi011-A
- EDi011-B
- EDi011-C
- EDi018-A
- EDi018-B
- EDi018-C
- STBCi068-A
- STBCi068-B
- STBCi068-C
- STBCi075-A
- STBCi075-B
- STBCi075-C
- STBCi076-A
- STBCi081-A
- STBCi081-B
- STBCi081-C
- STBCi091-A
- STBCi091-B
- STBCi091-C
- STBCi111-A
- STBCi112-A
- STBCi113-A
- STBCi114-A
- STBCi118-A
- STBCi125-A
- STBCi130-A
- STBCi135-A
- STBCi136-A
- STBCi145-A
- STBCi146-A
- STBCi147-A
- STBCi148-A
- STBCi149-A
- STBCi150-A
- STBCi151-A
- STBCi152-A
- STBCi153-A
- STBCi154-A
- STBCi155-A
- STBCi167-A
- STBCi168-A
- STBCi169-A
- STBCi170-A
- STBCi171-A
- STBCi172-A
- STBCi173-A
- STBCi174-A
- STBCi208-A
- STBCi209-A
- STBCi210-A
- STBCi211-A
- STBCi212-A
- STBCi249-A
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bipolar disorder
Show synonymsOntology Lookup Service"A mood disorder formerly characterised by alternating periods of mania and depression (and in some cases rapid cycling, mixed states, and psychotic symptoms)." [wikipedia:Bipolar_disorder]
Associated cell lines:
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Bipolar Disorder
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Birt-Hogg-Dube Syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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bleeding disorder, platelet-type, 21
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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blepharophimosis - intellectual disability syndrome, MKB type
Show synonymsOntology Lookup ServiceThe 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.
Associated cell lines:
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breast cancer
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Breast Carcinoma
Show synonymsOntology Lookup ServiceA 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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Brugada Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Brugada syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Brugada syndrome 1
Show synonymsOntology Lookup ServiceA Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
Associated cell lines:
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Calpain-3-related limb-girdle muscular dystrophy R1
Show synonymsOntology Lookup ServiceA subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling [...]
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Canavan Disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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cancer
Show synonymsOntology Lookup ServiceA disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.; Updating out dated UMLS CUI.
Associated cell lines:
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CAPRIN1
Ontology Lookup Servicecell 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, [...]
Associated cell lines:
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CARASIL syndrome
Show synonymsOntology Lookup ServiceCARASIL 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.
Associated cell lines:
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carbamoyl phosphate synthetase I deficiency disease
Show synonymsOntology Lookup ServiceCarbamoyl-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.
Associated cell lines:
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cardiac valvular defect
Ontology Lookup ServiceAssociated cell lines:
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cardiomyopathy
Show synonymsOntology Lookup ServiceA heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.; MESH:D009202 added from NeuroDevNet [WAK].
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Cardiomyopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- BRCi021-A
- CIRMi05U-A
- CIRMi730-A
- CIRMi732-A
- CIRMi733-A
- CIRMi734-A
- CIRMi737-A
- CIRMi739-A
- CIRMi740-A
- CIRMi745-A
- CIRMi747-A
- CIRMi748-A
- CIRMi753-A
- CIRMi759-A
- CIRMi765-A
- CIRMi767-A
- CIRMi768-A
- CIRMi772-A
- CIRMi773-A
- CIRMi775-A
- CIRMi776-A
- CIRMi777-A
- CIRMi780-A
- CIRMi789-A
- CIRMi794-A
- CIRMi805-A
- CIRMi811-A
- CIRMi817-A
- CIRMi824-A
- CIRMi825-A
- CIRMi830-A
- CIRMi837-A
- CIRMi839-A
- CIRMi845-A
- CIRMi847-A
- CIRMi859-A
- CIRMi867-A
- CIRMi871-A
- CIRMi873-A
- CIRMi878-A
- CIRMi972-A
- ISMMSi044-A
- ISMMSi045-A
- ISMMSi046-A
- ISMMSi047-A
- ISMMSi048-A
- TMOi001-A-11
- UMCGi002-A
- UMCGi002-B
- UMCGi002-C
- UMCGi009-A
- UMCUi005-A
- UMCUi012-A
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Cardiomyopathy, Dilated
Ontology Lookup Service -
Cardiotoxicity
Show synonymsOntology Lookup ServiceToxicity 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.
Associated cell lines:
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cataract
Show synonymsOntology Lookup ServicePartial 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.)
Associated cell lines:
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catecholaminergic polymorphic ventricular tachycardia
Show synonymsOntology Lookup ServiceCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Associated cell lines:
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Catecholaminergic polymorphic ventricular tachycardia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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catecholaminergic polymorphic ventricular tachycardia 2
Show synonymsOntology Lookup ServiceAny catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.
Associated cell lines:
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caveolinopathy
Show synonymsOntology Lookup ServiceA 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
Associated cell lines:
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CDC42
Ontology Lookup Servicecell division cycle 42
Associated cell lines:
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CDC42 Gene
Show synonymsOntology Lookup ServiceThis gene is involved in the regulation of the actin cytoskeleton.
Associated cell lines:
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CELF2
Ontology Lookup ServiceCUGBP, Elav-like family member 2
Associated cell lines:
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Celiac disease
Show synonymsOntology Lookup ServiceCeliac 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 occurrence of CD is seen as a feature of a number of other diseases.
Associated cell lines:
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Central core disease
Ontology Lookup ServiceCentral 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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Central Hypothyroidism
Show synonymsOntology Lookup ServiceAbnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.
Associated cell lines:
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cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Show synonymsOntology Lookup ServiceCADASIL (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.
Associated cell lines:
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Cerebral Cavernous Malformation
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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cerebral creatine deficiency syndrome 1
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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cerebrovascular disease
Show synonymsOntology Lookup ServiceAn vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Cernunnos-XLF deficiency
Show synonymsOntology Lookup ServiceCernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
Associated cell lines:
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cervical artery dissection
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Charcot-Marie-Tooth Disease
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Charcot-Marie-Tooth disease type 1
Show synonymsOntology Lookup ServiceA Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Charcot-Marie-Tooth disease type 1B
Show synonymsOntology Lookup ServiceCharcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and [...]
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Charcot-Marie-Tooth disease type 2
Show synonymsOntology Lookup ServiceA Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.; See MIM:604484 Okinawa type is CMT type 2.
Associated cell lines:
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Charcot-Marie-Tooth disease type 2A2B
Show synonymsOntology Lookup ServiceA Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
Associated cell lines:
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Charcot-Marie-Tooth disease type 4B3
Show synonymsOntology Lookup ServiceA Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.
Associated cell lines:
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Charcot-Marie-Tooth disease type 4B3
Show synonymsOntology Lookup ServiceCharcot-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).
Associated cell lines:
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Charcot-Marie-Tooth Disease Type 4B3
Show synonymsOntology Lookup ServiceAn autosomal recessive form of Charcot-Marie-Tooth disease caused by mutations in the SBF1 gene, encoding myotubularin-related protein 5.
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CHARGE Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Chemically Induced Cardiotoxicity
Show synonymsOntology Lookup ServiceDamage or injury to the heart caused by a chemical agent.
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Chemotherapy-Induced Peripheral Neuropathy
Show synonymsOntology Lookup ServiceAny disorder affecting the peripheral nerves resulting from exposure to chemotherapeutic agents.
Associated cell lines:
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Chemotherapy-related Cognitive Impairment
Show synonymsOntology Lookup ServiceDiminished mental function after chemotherapy.
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childhood acute myeloid leukemia
Show synonymsOntology Lookup ServiceAcute myeloid leukemia occurring in childhood.
Associated cell lines:
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cholestasis
Show synonymsOntology Lookup ServiceA bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
Associated cell lines:
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Choroideremia
Show synonymsOntology Lookup ServiceA rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision.
Associated cell lines:
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chromosomal disease
Ontology Lookup ServiceA genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
Associated cell lines:
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chromosome 16p11.2 deletion syndrome, 220-kb
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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chronic granulomatous disease
Show synonymsOntology Lookup ServiceChronic 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.
Associated cell lines:
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chronic intestinal pseudoobstruction
Show synonymsOntology Lookup ServiceChronic 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.
Associated cell lines:
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Chronic Lymphocytic Leukemia
Show synonymsOntology Lookup ServiceThe 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)
Associated cell lines:
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Chronic myeloid leukemia
Show synonymsOntology Lookup ServiceChronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.
Associated cell lines:
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Chronic Obstructive Pulmonary Disease
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Clark-Baraitser syndrome
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Class 3 Obesity
Show synonymsOntology Lookup ServiceBody mass index (BMI) greater than 40.
Associated cell lines:
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Classic glucose transporter type 1 deficiency syndrome
Show synonymsOntology Lookup ServiceA 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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CLN3
Ontology Lookup Serviceceroid-lipofuscinosis, neuronal 3
Associated cell lines:
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CLN5
Ontology Lookup Serviceceroid-lipofuscinosis, neuronal 5
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Cloaca
Show synonymsOntology Lookup ServiceThe singular posterior opening of the intestinal and urinary tracts of birds, reptiles, amphibians, marsupials and monotremes.
Associated cell lines:
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Clonal Hematopoiesis of Indeterminate Potential
Show synonymsOntology Lookup ServiceA term that refers to the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% [...]
Associated cell lines:
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Clubfoot
Show synonymsOntology Lookup ServiceThe 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.
Associated cell lines:
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Cockayne Syndrome
Show synonymsOntology Lookup ServiceAn autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
Associated cell lines:
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Coffin-Siris syndrome
Show synonymsOntology Lookup ServiceCoffin-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.
Associated cell lines:
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Coffin-Siris Syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Coffin-Siris syndrome
Show synonymsOntology Lookup ServiceA rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.
Associated cell lines:
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Cognitive Debriefing
Show synonymsOntology Lookup ServiceThe 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.
Associated cell lines:
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combined oxidative phosphorylation deficiency 23
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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cone dystrophy with supernormal rod response
Show synonymsOntology Lookup ServiceCone 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 [...]
Associated cell lines:
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Cone dystrophy with supernormal rod response
Show synonymsOntology Lookup ServiceCone 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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cone-rod dystrophy
Show synonymsOntology Lookup ServiceA retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Congenital Cataract
Show synonymsOntology Lookup ServiceCataract that is present at birth.
Associated cell lines:
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congenital central hypoventilation syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Congenital contractural arachnodactyly
Show synonymsOntology Lookup ServiceA rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Associated cell lines:
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Congenital Disorder of Deglycosylation
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Congenital Heart Disease
Show synonymsOntology Lookup ServiceA heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.
Associated cell lines:
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congenital heart disease
Show synonymsOntology Lookup ServiceA 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
Associated cell lines:
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Congenital muscular dystrophy
Show synonymsOntology Lookup ServiceCongenital 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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Congenital muscular dystrophy due to LMNA mutation
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Congenital Myasthenic Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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congenital myopathy 18
Ontology Lookup ServiceA congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
Associated cell lines:
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Congenital Myotonic Dystrophy
Show synonymsOntology Lookup ServiceMyotonic dystrophy that is present at birth.
Associated cell lines:
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copper ion binding
Show synonymsOntology Lookup ServiceBinding to a copper (Cu) ion.
Associated cell lines:
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Cornelia De Lange Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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coronary artery vasospasm
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Coronary Slow Flow Phenomenon
Show synonymsOntology Lookup ServiceAn angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease.
Associated cell lines:
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corticobasal degeneration disorder
Show synonymsOntology Lookup ServiceA progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.
Associated cell lines:
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COVID-19
Show synonymsOntology Lookup ServiceA Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.
Associated cell lines:
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COVID-19 Infection
Show synonymsOntology Lookup ServiceAn 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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Crigler-Najjar syndrome
Show synonymsOntology Lookup ServiceA 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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CSTB wt Allele
Show synonymsOntology Lookup ServiceHuman 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).
Associated cell lines:
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CTNNB1 Gene Mutation
Show synonymsOntology Lookup ServiceA change in the nucleotide sequence of the CTNNB1 gene.
Associated cell lines:
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Cystic Fibrosis
Show synonymsOntology Lookup ServiceA 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, [...]
Associated cell lines:
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Cystic fibrosis
Show synonymsOntology Lookup ServiceA rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.
Associated cell lines:
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Danon disease
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Deafness, Autosomal Recessive 1A
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Dent Disease
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Dentatorubral pallidoluysian atrophy
Show synonymsOntology Lookup ServiceA rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Associated cell lines:
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Depression
Show synonymsOntology Lookup ServiceFrequently 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.
Associated cell lines:
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Dermatomyositis
Show synonymsOntology Lookup ServiceInflammation of the skin and muscle.
Associated cell lines:
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Desminopathy
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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developmental and epileptic encephalopathy
Ontology Lookup ServiceAn 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.
Associated cell lines:
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Developmental and Epileptic Encephalopathy
Show synonymsOntology Lookup ServiceA neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction.
Associated cell lines:
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developmental and epileptic encephalopathy 31A
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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developmental and epileptic encephalopathy 7
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Developmental and Epileptic Encephalopathy 7
Show synonymsOntology Lookup ServiceAn 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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Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects
Show synonymsOntology Lookup ServiceAn X-linked dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SMC1A gene, encoding structural maintenance of chromosomes protein 1A.
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developmental and epileptic encephalopathy, 26
Show synonymsOntology Lookup ServiceAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.
Associated cell lines:
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developmental and epileptic encephalopathy, 28
Show synonymsOntology Lookup ServiceAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.
Associated cell lines:
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developmental and epileptic encephalopathy, 46
Show synonymsOntology Lookup ServiceAny early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.
Associated cell lines:
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developmental and epileptic encephalopathy, 60
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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developmental and epileptic encephalopathy, 7
Show synonymsOntology Lookup ServiceKCNQ2-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 [...]
Associated cell lines:
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Developmental Delay
Show synonymsOntology Lookup ServiceFailure to meet, or late achievement of developmental milestones.
Associated cell lines:
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diabetes mellitus
Show synonymsOntology Lookup ServiceA glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
Associated cell lines:
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Diabetes Mellitus
Show synonymsOntology Lookup ServiceA metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
Associated cell lines:
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diabetes mellitus
Show synonymsOntology Lookup ServiceA metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
Associated cell lines:
- NSHDMUi001-A
- RCSIi002-A
- RCSIi005-A
- STBCi020-A
- STBCi020-B
- STBCi038-A
- STBCi038-B
- STBCi038-C
- STBCi048-A
- STBCi048-B
- STBCi048-C
- STBCi054-A
- STBCi054-B
- STBCi058-A
- STBCi058-B
- STBCi058-C
- STBCi069-A
- STBCi069-B
- STBCi069-C
- STBCi070-A
- STBCi070-B
- STBCi073-A
- STBCi073-B
- STBCi074-A
- STBCi074-B
- STBCi074-C
- STBCi078-A
- STBCi078-B
- STBCi078-C
- STBCi079-A
- STBCi079-B
- STBCi079-C
- STBCi080-A
- STBCi080-B
- STBCi080-C
- STBCi082-A
- STBCi082-B
- STBCi082-C
- STBCi092-A
- STBCi092-B
- STBCi092-C
- STBCi093-A
- STBCi093-B
- STBCi103-A
- STBCi108-A
- STBCi119-A
- STBCi120-A
- STBCi121-A
- STBCi123-A
- STBCi128-A
- STBCi131-A
- STBCi132-A
- STBCi133-A
- STBCi142-A
- STBCi175-A
- STBCi176-A
- STBCi177-A
- STBCi178-A
- STBCi179-A
- STBCi180-A
- STBCi186-A
- STBCi187-A
- STBCi188-A
- STBCi189-A
- STBCi190-A
- STBCi191-A
- STBCi192-A
- STBCi193-A
- STBCi194-A
- STBCi199-A
- STBCi200-A
- STBCi201-A
- STBCi202-A
- STBCi203-A
- STBCi204-A
- STBCi205-A
- STBCi206-A
- STBCi207-A
- STBCi215-A
- STBCi216-A
- STBCi217-A
- STBCi218-A
- STBCi219-A
- STBCi220-A
- STBCi221-A
- STBCi222-A
- STBCi252-A
- STBCi316-A
- STBCi317-A
- STBCi318-A
- STBCi319-A
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Diabetic Nephropathy
Show synonymsOntology Lookup ServiceProgressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.
Associated cell lines:
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diabetic retinopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
- CIRMi269-A
- CIRMi285-A
- CIRMi292-A
- CIRMi293-A
- CIRMi314-A
- CIRMi319-A
- CIRMi320-A
- CIRMi323-A
- CIRMi329-A
- CIRMi335-A
- CIRMi339-A
- CIRMi351-A
- CIRMi361-A
- CIRMi380-A
- CIRMi389-A
- CIRMi402-A
- CIRMi404-A
- CIRMi410-A
- CIRMi412-A
- CIRMi421-A
- CIRMi456-A
- CIRMi460-A
- CIRMi461-A
- CIRMi463-A
- CIRMi474-A
- CIRMi484-A
- CIRMi496-A
- CIRMi498-A
- CIRMi507-A
- CIRMi511-A
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Diamond-Blackfan anemia
Show synonymsOntology Lookup ServiceA congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Associated cell lines:
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Diamond-Blackfan anemia 1
Show synonymsOntology Lookup ServiceAny Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.
Associated cell lines:
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dilated cardiomyopathy
Show synonymsOntology Lookup ServiceCardiomyopathy 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.
Associated cell lines:
-
Dilated Cardiomyopathy
Show synonymsOntology Lookup ServiceCardiomyopathy 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.
Associated cell lines:
- BBANTWi012-A-1
- BBANTWi012-A-2
- BBANTWi012-A-3
- BBANTWi012-A-4
- CCMi012-A
- CHZJUi001-A
- CIRMi00B-A
- CIRMi00C-A
- CIRMi00D-A
- CIRMi00E-A
- CIRMi00F-A
- CIRMi00G-A
- CIRMi00H-A
- CIRMi00I-A
- CIRMi00K-A
- CIRMi00L-A
- CIRMi00P-A
- CIRMi00Q-A
- CIRMi00R-A
- CIRMi00S-A
- CIRMi00U-A
- CIRMi00W-A
- CIRMi00Z-A
- CIRMi01A-A
- CIRMi01C-A
- CIRMi01E-A
- CIRMi01F-A
- CIRMi01G-A
- CIRMi01H-A
- CIRMi01I-A
- CIRMi01J-A
- CIRMi01L-A
- CIRMi01M-A
- CIRMi01N-A
- CIRMi01R-A
- CIRMi01T-A
- CIRMi01U-A
- CIRMi01W-A
- CIRMi01X-A
- CIRMi01Y-A
- CIRMi01Z-A
- CIRMi02A-A
- CIRMi02B-A
- CIRMi02C-A
- CIRMi02D-A
- CIRMi02F-A
- CIRMi02H-A
- CIRMi02I-A
- CIRMi02J-A
- CIRMi02L-A
- CIRMi02M-A
- CIRMi02O-A
- CIRMi02P-A
- CIRMi02Q-A
- CIRMi02R-A
- CIRMi02U-A
- CIRMi02W-A
- CIRMi02X-A
- CIRMi02Y-A
- CIRMi03A-A
- CIRMi03C-A
- CIRMi03D-A
- CIRMi03E-A
- CIRMi03F-A
- CIRMi03G-A
- CIRMi03H-A
- CIRMi03I-A
- CIRMi03J-A
- CIRMi03K-A
- CIRMi03M-A
- CIRMi03N-A
- CIRMi03O-A
- CIRMi03P-A
- CIRMi03Q-A
- CIRMi03R-A
- CIRMi03S-A
- CIRMi03T-A
- CIRMi03U-A
- CIRMi03V-A
- CIRMi03W-A
- CIRMi03X-A
- CIRMi03Y-A
- CIRMi03Z-A
- CIRMi04A-A
- CIRMi04B-A
- CIRMi04C-A
- CIRMi04D-A
- CIRMi04E-A
- CIRMi04G-A
- CIRMi04H-A
- CIRMi04J-A
- CIRMi04K-A
- CIRMi04L-A
- CIRMi04M-A
- CIRMi04N-A
- CIRMi04O-A
- CIRMi04P-A
- CIRMi04R-A
- CIRMi04S-A
- CIRMi04T-A
- CIRMi04W-A
- CIRMi04X-A
- CIRMi04Y-A
- CIRMi04Z-A
- CIRMi05A-A
- CIRMi05B-A
- CIRMi05C-A
- CIRMi05D-A
- CIRMi05E-A
- CIRMi05F-A
- CIRMi05G-A
- CIRMi05H-A
- CIRMi05I-A
- CIRMi05J-A
- CIRMi05K-A
- CIRMi05L-A
- CIRMi05M-A
- CIRMi05N-A
- CIRMi05O-A
- CIRMi05P-A
- CIRMi05Q-A
- CIRMi05R-A
- CIRMi05S-A
- CIRMi05T-A
- CIRMi05V-A
- CIRMi05W-A
- CIRMi05X-A
- CIRMi05Y-A
- CIRMi05Z-A
- CIRMi06A-A
- CIRMi06B-A
- CIRMi727-A
- CIRMi728-A
- CIRMi729-A
- CIRMi735-A
- CIRMi738-A
- CIRMi743-A
- CIRMi749-A
- CIRMi750-A
- CIRMi751-A
- CIRMi754-A
- CIRMi755-A
- CIRMi756-A
- CIRMi757-A
- CIRMi758-A
- CIRMi760-A
- CIRMi762-A
- CIRMi763-A
- CIRMi764-A
- CIRMi766-A
- CIRMi769-A
- CIRMi774-A
- CIRMi778-A
- CIRMi782-A
- CIRMi783-A
- CIRMi784-A
- CIRMi785-A
- CIRMi787-A
- CIRMi788-A
- CIRMi791-A
- CIRMi795-A
- CIRMi796-A
- CIRMi798-A
- CIRMi800-A
- CIRMi801-A
- CIRMi802-A
- CIRMi804-A
- CIRMi806-A
- CIRMi807-A
- CIRMi808-A
- CIRMi809-A
- CIRMi810-A
- CIRMi812-A
- CIRMi813-A
- CIRMi814-A
- CIRMi818-A
- CIRMi819-A
- CIRMi820-A
- CIRMi821-A
- CIRMi822-A
- CIRMi826-A
- CIRMi827-A
- CIRMi828-A
- CIRMi829-A
- CIRMi831-A
- CIRMi832-A
- CIRMi833-A
- CIRMi834-A
- CIRMi836-A
- CIRMi840-A
- CIRMi841-A
- CIRMi842-A
- CIRMi844-A
- CIRMi848-A
- CIRMi849-A
- CIRMi853-A
- CIRMi854-A
- CIRMi855-A
- CIRMi856-A
- CIRMi857-A
- CIRMi858-A
- CIRMi860-A
- CIRMi862-A
- CIRMi863-A
- CIRMi868-A
- CIRMi870-A
- CIRMi872-A
- CIRMi874-A
- CIRMi875-A
- CIRMi876-A
- CIRMi877-A
- CIRMi879-A
- CIRMi880-A
- CIRMi883-A
- CIRMi884-A
- CIRMi885-A
- CIRMi886-A
- CIRMi887-A
- CIRMi888-A
- CIRMi889-A
- CIRMi890-A
- CIRMi891-A
- CIRMi892-A
- CIRMi894-A
- CIRMi895-A
- CIRMi896-A
- CIRMi898-A
- CIRMi899-A
- CIRMi900-A
- CIRMi901-A
- CIRMi902-A
- CIRMi903-A
- CIRMi904-A
- CIRMi905-A
- CIRMi906-A
- CIRMi907-A
- CIRMi908-A
- CIRMi911-A
- CIRMi912-A
- CIRMi913-A
- CIRMi914-A
- CIRMi915-A
- CIRMi916-A
- CIRMi917-A
- CIRMi918-A
- CIRMi921-A
- CIRMi922-A
- CIRMi923-A
- CIRMi924-A
- CIRMi925-A
- CIRMi926-A
- CIRMi927-A
- CIRMi928-A
- CIRMi930-A
- CIRMi931-A
- CIRMi932-A
- CIRMi933-A
- CIRMi934-A
- CIRMi935-A
- CIRMi936-A
- CIRMi938-A
- CIRMi939-A
- CIRMi940-A
- CIRMi941-A
- CIRMi942-A
- CIRMi943-A
- CIRMi944-A
- CIRMi945-A
- CIRMi946-A
- CIRMi948-A
- CIRMi949-A
- CIRMi950-A
- CIRMi951-A
- CIRMi952-A
- CIRMi953-A
- CIRMi954-A
- CIRMi955-A
- CIRMi956-A
- CIRMi957-A
- CIRMi958-A
- CIRMi959-A
- CIRMi960-A
- CIRMi961-A
- CIRMi962-A
- CIRMi963-A
- CIRMi964-A
- CIRMi967-A
- CIRMi973-A
- CIRMi974-A
- CIRMi975-A
- CIRMi976-A
- CIRMi977-A
- CIRMi978-A
- CIRMi979-A
- CIRMi980-A
- CIRMi981-A
- CIRMi986-A
- CIRMi987-A
- CIRMi989-A
- CIRMi990-A
- CIRMi991-A
- CIRMi992-A
- CIRMi993-A
- CIRMi994-A
- CIRMi995-A
- CIRMi996-A
- CIRMi997-A
- CIRMi998-A
- FAMRCi006-A
- FAMRCi006-B
- ICSSUi006-A
- SCVIi049-A
- SCVIi050-A
- SCVIi059-A
- SCVIi060-A
- SCVIi073-A
- SCVIi121-A
- SCVIi123-A
- SCVIi132-A
- SCVIi140-A
- SCVIi141-A
- USFi002-A
- USFi003-A
- WAe009-A-1E
- YCMi003-A
- YCMi004-A
- YCMi005-A
- YCMi007-A
-
dilated cardiomyopathy
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Dilated cardiomyopathy
Ontology Lookup ServiceAssociated cell lines:
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dilated cardiomyopathy 1G
Show synonymsOntology Lookup ServiceAny familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
Associated cell lines:
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dilated cardiomyopathy 1HH
Show synonymsOntology Lookup ServiceAny familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.
Associated cell lines:
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dilated cardiomyopathy 1II
Show synonymsOntology Lookup ServiceAny familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.
Associated cell lines:
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Dilated cardiomyopathy with ataxia
Show synonymsOntology Lookup ServiceDilated 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.
Associated cell lines:
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Distal Renal Tubular Acidosis
Show synonymsOntology Lookup ServiceFailure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis.
Associated cell lines:
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Donnai-Barrow syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Down syndrome
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Down Syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Down syndrome
Show synonymsOntology Lookup ServiceA 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, [...]
Associated cell lines:
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Doyne honeycomb retinal dystrophy
Show synonymsOntology Lookup ServiceDoyne 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 [...]
Associated cell lines:
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Dravet Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Dravet syndrome
Show synonymsOntology Lookup ServiceA rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
Associated cell lines:
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drug-induced liver injury
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Dry Eye Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Duchenne and Becker muscular dystrophy
Show synonymsOntology Lookup ServiceA group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.
Associated cell lines:
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Duchenne muscular dystrophy
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Duchenne muscular dystrophy
Show synonymsOntology Lookup ServiceDuchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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Duchenne Muscular Dystrophy
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Duchenne muscular dystrophy
Show synonymsOntology Lookup ServiceA rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Associated cell lines:
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DYRK1A-related intellectual disability syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Dyskeratosis Congenita
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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dyskinesia with orofacial involvement
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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dyskinesia with orofacial involvement, autosomal dominant
Show synonymsOntology Lookup ServiceA rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
Associated cell lines:
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Dyslipidemia
Show synonymsOntology Lookup ServiceA lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides.
Associated cell lines:
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Early infantile epileptic encephalopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Edwards syndrome
Show synonymsOntology Lookup ServiceA chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.; OMIM mapping confirmed by DO. [LS].
Associated cell lines:
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Ehlers-Danlos Syndrome
Show synonymsOntology Lookup ServiceAn inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.
Associated cell lines:
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Ehlers-Danlos syndrome, vascular type
Show synonymsOntology Lookup ServiceEhlers-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.
Associated cell lines:
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Emery-Dreifuss muscular dystrophy
Show synonymsOntology Lookup ServiceA muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Emery-Dreifuss Muscular Dystrophy
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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endocrine gland cancer
Show synonymsOntology Lookup ServiceAn organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Associated cell lines:
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Epidermodysplasia Verruciformis
Show synonymsOntology Lookup ServiceAn 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 [...]
Associated cell lines:
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Epidermolysis Bullosa
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Epidermolysis Bullosa Dystrophica
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Show synonymsOntology Lookup ServiceAn autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.
Associated cell lines:
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epidermolysis bullosa simplex
Ontology Lookup ServiceAn 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.
Associated cell lines:
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Epidermolysis Bullosa Simplex
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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epidermolysis bullosa simplex 2F, with mottled pigmentation
Show synonymsOntology Lookup ServiceA basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.
Associated cell lines:
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epilepsy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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epilepsy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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epilepsy, familial focal, with variable foci 1
Show synonymsOntology Lookup ServiceAny epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.
Associated cell lines:
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Epileptic encephalopathy
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Ewing Sarcoma
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Fabry disease
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Fabry Disease
Show synonymsOntology Lookup ServiceA 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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Facioscapulohumeral dystrophy
Show synonymsOntology Lookup ServiceA rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
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facioscapulohumeral muscular dystrophy
Show synonymsOntology Lookup ServiceOMIM mapping confirmed by DO. [SN].
Associated cell lines:
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facioscapulohumeral muscular dystrophy 2
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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factor VIII deficiency
Show synonymsOntology Lookup ServiceA hemophilia 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].
Associated cell lines:
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familial adenomatous polyposis
Show synonymsOntology Lookup ServiceAn intestinal disease that is characterized by predisposition to colon cancer.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Familial Dysautonomia
Show synonymsOntology Lookup ServiceA congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
Associated cell lines:
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Familial exudative vitreoretinopathy
Show synonymsOntology Lookup ServiceFamilial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
Associated cell lines:
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familial hemiplegic migraine 3
Show synonymsOntology Lookup ServiceA familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.
Associated cell lines:
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familial hypercholesterolemia
Show synonymsOntology Lookup ServiceA familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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familial hypercholesterolemia
Show synonymsOntology Lookup ServiceAn inheritable form of hyperlipidemia, in which there are excess lipids in the blood.; Editor note: TODO check xrefs
Associated cell lines:
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familial hypercholesterolemia
Show synonymsOntology Lookup ServiceAn 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); [...]
Associated cell lines:
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familial long QT syndrome
Show synonymsOntology Lookup ServiceA hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.
Associated cell lines:
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Familial long QT syndrome
Show synonymsOntology Lookup ServiceA 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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familial Mediterranean fever
Show synonymsOntology Lookup ServiceAn autoinflammatory 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].
Associated cell lines:
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familial partial lipodystrophy type 2
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Familial platelet disorder with associated myeloid malignancy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Familial progressive cardiac conduction defect
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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familial thoracic aortic aneurysm and aortic dissection
Show synonymsOntology Lookup ServiceA 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, [...]
Associated cell lines:
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Fanconi anemia
Show synonymsOntology Lookup ServiceA 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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Fanconi-Bickel syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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fetal and neonatal alloimmune thrombocytopenia
Show synonymsOntology Lookup ServiceFetal 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 [...]
Associated cell lines:
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FG syndrome
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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fibrodysplasia ossificans progressiva
Show synonymsOntology Lookup ServiceA 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].
Associated cell lines:
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Fibrodysplasia Ossificans Progressiva
Show synonymsOntology Lookup ServiceA condition in which there is progressive heterotopic bone formation of the tendons and muscles.
Associated cell lines:
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Fibrodysplasia ossificans progressiva
Show synonymsOntology Lookup ServiceFibrodysplasia 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.
Associated cell lines:
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fibromuscular dysplasia
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Fibronectin glomerulopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Floating-Harbor syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Floating-Harbor syndrome
Show synonymsOntology Lookup ServiceFloating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Associated cell lines:
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Focal Segmental Glomerulosclerosis
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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focal segmental glomerulosclerosis
Show synonymsOntology Lookup ServiceA 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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focal segmental glomerulosclerosis 7
Show synonymsOntology Lookup ServiceA focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.
Associated cell lines:
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Fontan Procedure
Ontology Lookup ServiceAssociated cell lines:
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Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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FOXG1 syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Fragile X Syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Fragile X syndrome
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Friedreich Ataxia
Show synonymsOntology Lookup ServiceAn 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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Frontotemporal Dementia
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Frontotemporal dementia
Show synonymsOntology Lookup ServiceFrontotemporal 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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Gabriele-de Vries syndrome
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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Gastritis
Show synonymsOntology Lookup ServiceInflammation of the stomach.
Associated cell lines:
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Gaucher disease
Show synonymsOntology Lookup ServiceGaucher 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).
Associated cell lines:
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Gaucher disease type 1
Show synonymsOntology Lookup ServiceGaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.
Associated cell lines:
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Gaucher disease type 3
Show synonymsOntology Lookup ServiceGaucher 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).
Associated cell lines:
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Generalized Anxiety Disorder - 7 Questionnaire
Show synonymsOntology Lookup ServiceA seven item validated, self-reported questionnaire for screening, and assessing the severity of generalized anxiety disorder in clinical practice and research settings.
Associated cell lines:
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Generalized Epilepsy
Show synonymsOntology Lookup ServiceA chronic condition characterized by recurrent generalized seizures.
Associated cell lines:
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Gitelman Syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Glioma
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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Glomerulopathy
Show synonymsOntology Lookup ServiceChronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins.
Associated cell lines:
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Glucose-6-Phosphate Dehydrogenase Deficiency
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Glutaric Acidemia Type 1
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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glycogen storage disease
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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glycogen storage disease due to acid maltase deficiency, infantile onset
Show synonymsOntology Lookup ServiceGlycogen 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.
Associated cell lines:
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glycogen storage disease due to acid maltase deficiency, late-onset
Show synonymsOntology Lookup ServiceGlycogen 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.
Associated cell lines:
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glycogen storage disease I
Show synonymsOntology Lookup ServiceGlycogenosis 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.
Associated cell lines:
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glycogen storage disease II
Show synonymsOntology Lookup ServiceGlycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. [...]
Associated cell lines:
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Glycogen Storage Disease Type III
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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GM1 gangliosidosis
Show synonymsOntology Lookup ServiceA rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Associated cell lines:
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GM1 Gangliosidosis
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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GNB5-related intellectual disability-cardiac arrhythmia syndrome
Ontology Lookup ServiceA 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.
Associated cell lines:
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GNE myopathy
Show synonymsOntology Lookup ServiceGNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
Associated cell lines:
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Gordon Holmes syndrome
Show synonymsOntology Lookup ServiceAn 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.
Associated cell lines:
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Gyrate atrophy of choroid and retina
Show synonymsOntology Lookup ServiceGyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.
Associated cell lines:
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Haploinsufficiency
Ontology Lookup ServiceAssociated cell lines:
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Healthy
Show synonymsOntology Lookup ServiceHaving no significant health-related issues.
Associated cell lines:
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Healthy Subject
Show synonymsOntology Lookup ServiceAn individual who is or becomes a participant in a research study and has no significant health-related issues.
Associated cell lines:
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Hearing Loss
Show synonymsOntology Lookup ServiceA partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.
Associated cell lines:
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heart disease
Show synonymsOntology Lookup ServiceA disease involving the heart and/or pericardium.; Pathological conditions involving the HEART including its structural and functional abnormalities.
Associated cell lines:
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Heart Failure
Show synonymsOntology Lookup ServiceInability 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.
Associated cell lines:
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Heart Failure
Ontology Lookup ServiceAssociated cell lines:
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hematologic disease
Show synonymsOntology Lookup ServiceA disease involving the hematopoietic system.; Disorders of the blood and blood forming tissues.; placeholder for lymphoid disease
Associated cell lines:
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Hemoglobin E-beta-thalassemia syndrome
Show synonymsOntology Lookup ServiceHemoglobin 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).
Associated cell lines:
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Hemophilia A
Show synonymsOntology Lookup ServiceA rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
Associated cell lines:
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Hemophilia B
Show synonymsOntology Lookup ServiceAn X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.
Associated cell lines:
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Hepatic Steatosis
Show synonymsOntology Lookup ServiceA morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma.
Associated cell lines:
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Hepatitis C Infection
Show synonymsOntology Lookup ServiceA viral infection caused by the hepatitis C virus.
Associated cell lines:
- CIRMi06E-A
- CIRMi06G-A
- CIRMi06J-A
- CIRMi06M-A
- CIRMi06N-A
- CIRMi06P-A
- CIRMi06S-A
- CIRMi06U-A
- CIRMi06V-A
- CIRMi06Z-A
- CIRMi07A-A
- CIRMi07B-A
- CIRMi07D-A
- CIRMi07E-A
- CIRMi07G-A
- CIRMi07I-A
- CIRMi07K-A
- CIRMi07M-A
- CIRMi07N-A
- CIRMi07O-A
- CIRMi07P-A
- CIRMi07Q-A
- CIRMi07R-A
- CIRMi07S-A
- CIRMi07T-A
- CIRMi07U-A
- CIRMi07V-A
- CIRMi07W-A
- CIRMi07X-A
- CIRMi07Y-A
- CIRMi08B-A
- CIRMi08C-A
- CIRMi08D-A
- CIRMi08E-A
- CIRMi08F-A
- CIRMi08G-A
- CIRMi08H-A
- CIRMi08I-A
- CIRMi08J-A
- CIRMi08K-A
- CIRMi08L-A
- CIRMi08M-A
- CIRMi08N-A
- CIRMi08O-A
- CIRMi08P-A
- CIRMi08Q-A
- CIRMi08R-A
- CIRMi08T-A
- CIRMi08U-A
- CIRMi08V-A
- CIRMi08W-A
- CIRMi08X-A
- CIRMi08Y-A
- CIRMi08Z-A
- CIRMi09A-A
- CIRMi09B-A
- CIRMi09C-A
- CIRMi09D-A
- CIRMi09E-A
- CIRMi09F-A
- CIRMi09G-A
- CIRMi09H-A
- CIRMi09I-A
- CIRMi09J-A
- CIRMi09K-A
- CIRMi09O-A
- CIRMi09P-A
- CIRMi09Q-A
- CIRMi09R-A
- CIRMi09S-A
- CIRMi09T-A
- CIRMi09U-A
- CIRMi09V-A
- CIRMi09W-A
- CIRMi09X-A
- CIRMi09Y-A
- CIRMi09Z-A
- CIRMi10D-A
- CIRMi10E-A
- CIRMi10F-A
- CIRMi10G-A
- CIRMi10H-A
- CIRMi10I-A
- CIRMi10J-A
- CIRMi10K-A
- CIRMi10L-A
- CIRMi10M-A
- CIRMi10Q-A
- CIRMi10R-A
- CIRMi11N-A
- CIRMi11O-A
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Hepatocellular Carcinoma
Show synonymsOntology Lookup ServiceA malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic [...]
Associated cell lines:
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Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes
Show synonymsOntology Lookup ServiceMonogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.
Associated cell lines:
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Hepatolenticular Degeneration
Show synonymsOntology Lookup ServiceA rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
Associated cell lines:
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hereditary antithrombin deficiency
Show synonymsOntology Lookup ServiceA rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
Associated cell lines:
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Hereditary ataxia
Ontology Lookup Service -
Hereditary Fructose Intolerance
Show synonymsOntology Lookup ServiceA genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.
Associated cell lines:
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Hereditary Hemorrhagic Telangiectasia
Show synonymsOntology Lookup ServiceAn autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.
Associated cell lines:
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hereditary multiple exostoses
Show synonymsOntology Lookup ServiceAn exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Hereditary Retinal Dystrophy
Show synonymsOntology Lookup ServiceAn inherited form of retinal dystrophy.
Associated cell lines:
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Hereditary Spastic Paraplegia
Show synonymsOntology Lookup ServiceSpastic paraplegia that is transmitted from parent to child.
Associated cell lines:
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Hereditary spastic paraplegia
Show synonymsOntology Lookup ServiceA genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.
Associated cell lines:
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hereditary spastic paraplegia 31
Show synonymsOntology Lookup ServiceA hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11.
Associated cell lines:
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hereditary spastic paraplegia 56
Show synonymsOntology Lookup ServiceAny hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.
Associated cell lines:
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Heritable Pulmonary Arterial Hypertension
Show synonymsOntology Lookup ServiceA rare, progressive, autosomal dominant inherited disorder. It is caused by mutation in the BMPR2 gene in most cases. It is characterized by abnormally high blood pressure in the pulmonary artery, caused by obstruction and obliteration of the small pulmonary arteries.
Associated cell lines:
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Heritable pulmonary arterial hypertension
Show synonymsOntology Lookup ServiceHeritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
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Herpes Simplex Encephalitis
Show synonymsOntology Lookup ServiceA serious viral disorder characterized by infection of the brain by herpes simplex virus type 1 or 2. Herpes simplex virus type 1 affects adults, whereas herpes simplex virus type 2 affects newborns. Signs and symptoms include fever, headaches, vomiting, seizures and psychiatric manifestations.
Associated cell lines:
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HNF1B
Ontology Lookup ServiceHNF1 homeobox B; Other designations: HNF-1-beta|HNF1 beta A|hepatocyte nuclear factor 1-beta|homeoprotein LFB3|transcription factor 2, hepatic
Associated cell lines:
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Holt-Oram Syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.
Associated cell lines:
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Hunter Syndrome
Show synonymsOntology Lookup ServiceAn X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly.
Associated cell lines:
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Huntington disease
Show synonymsOntology Lookup ServiceHuntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Associated cell lines:
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Huntington Disease
Ontology Lookup ServiceAssociated cell lines:
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Huntington disease
Show synonymsOntology Lookup ServiceHuntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Associated cell lines:
- CHDIi001-A
- CHDIi002-A
- CHDIi003-A
- CHDIi005-A
- CHDIi006-A
- CHDIi008-A
- CHDIi010-A
- CHDIi011-A
- CHDIi017-A
- CHDIi018-A
- CHDIi019-A
- CHDIi020-A
- CHDIi021-A
- CHDIi022-A
- CHDIi026-A
- CHDIi028-A
- CHDIi029-A
- CHDIi031-A
- CHDIi033-A
- CHDIi034-A
- CHDIi035-A
- CHDIi036-A
- CHDIi038-A
- CHDIi040-A
- CHDIi041-A
- CHDIi045-A
- CHDIi046-A
- CHDIi048-A
- CHDIi049-A
- CHDIi055-A
- CSSi004-A
- CSSi006-A
- GENEAe013-A
- GENEAe015-A
- GENEAe018-A
- GENEAe019-A
- ICGi007-A
- ICGi033-A
- ICGi033-B
- ICGi033-C
- INSRMe003-A
- KCLe009-A
- KCLe010-A
- RCi004-A
- RCi004-A-1
- RCi004-B
- RCPCMi002-A
- RGIe091-A
- RGIe092-A
- RGIe098-A
- VUBe005-A
- WAe009-A-1P
- WAe009-A-1Q
- WAe009-A-1R
-
Huntington's Disease
Show synonymsOntology Lookup ServiceA progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.
Associated cell lines:
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Hutchinson-Gilford progeria syndrome
Show synonymsOntology Lookup ServiceHutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and [...]
Associated cell lines:
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Hypercholesterolemia
Show synonymsOntology Lookup ServiceA laboratory test result indicating an increased amount of cholesterol in the blood.
Associated cell lines:
-
hyperinsulinemic hypoglycemia
Show synonymsOntology Lookup ServiceA carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.; An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene [...]
Associated cell lines:
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Hyperlipoproteinemia
Show synonymsOntology Lookup ServiceAn elevated concentration of lipoproteins.
Associated cell lines:
-
hyperlipoproteinemia type IV
Show synonymsOntology Lookup ServiceOMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Hyperlipoproteinemia, Type IIa
Show synonymsOntology Lookup ServiceAn autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.
Associated cell lines:
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hyperparathyroidism
Show synonymsOntology Lookup ServiceHyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, [...]
Associated cell lines:
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Hypertension
Show synonymsOntology Lookup ServiceBlood pressure that is abnormally high.
Associated cell lines:
-
Hypertrophic cardiomyopathy
Show synonymsOntology Lookup ServiceHypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Associated cell lines:
-
Hypertrophic Cardiomyopathy
Show synonymsOntology Lookup ServiceA condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Associated cell lines:
- AUMCi010-A
- AUMCi010-B
- AUMCi010-C
- AUMCi010-D
- AUMCi010-E
- AUMCi010-F
- AUMCi011-A
- AUMCi011-B
- AUMCi011-C
- AUMCi011-D
- AUMCi011-E
- AUMCi011-F
- AUMCi012-A
- AUMCi012-B
- AUMCi012-C
- AUMCi012-D
- AUMCi012-E
- AUMCi012-F
- AUMCi013-A
- AUMCi013-B
- AUMCi013-C
- AUMCi013-D
- AUMCi013-E
- AUMCi013-F
- AUMCi014-A
- AUMCi014-B
- AUMCi014-C
- AUMCi014-D
- AUMCi014-E
- AUMCi014-F
- AUMCi014-G
- AUMCi014-H
- AUMCi014-I
- AUMCi014-J
- CBCHi001-A-1
- CIRMi00A-A
- CIRMi00J-A
- CIRMi00M-A
- CIRMi00N-A
- CIRMi00O-A
- CIRMi00T-A
- CIRMi01B-A
- CIRMi01D-A
- CIRMi01O-A
- CIRMi01P-A
- CIRMi01S-A
- CIRMi01V-A
- CIRMi02E-A
- CIRMi02G-A
- CIRMi02K-A
- CIRMi02N-A
- CIRMi02S-A
- CIRMi03B-A
- CIRMi03L-A
- CIRMi04F-A
- CIRMi04I-A
- CIRMi04Q-A
- CIRMi726-A
- CIRMi731-A
- CIRMi736-A
- CIRMi741-A
- CIRMi742-A
- CIRMi744-A
- CIRMi746-A
- CIRMi752-A
- CIRMi761-A
- CIRMi770-A
- CIRMi771-A
- CIRMi779-A
- CIRMi781-A
- CIRMi786-A
- CIRMi790-A
- CIRMi792-A
- CIRMi793-A
- CIRMi797-A
- CIRMi799-A
- CIRMi815-A
- CIRMi816-A
- CIRMi823-A
- CIRMi835-A
- CIRMi838-A
- CIRMi850-A
- CIRMi851-A
- CIRMi852-A
- CIRMi861-A
- CIRMi865-A
- CIRMi866-A
- CIRMi869-A
- CIRMi881-A
- CIRMi893-A
- CIRMi909-A
- CIRMi919-A
- CIRMi920-A
- CIRMi929-A
- CIRMi937-A
- CIRMi947-A
- CIRMi965-A
- CIRMi969-A
- CIRMi970-A
- CIRMi971-A
- CIRMi982-A
- CIRMi983-A
- CIRMi984-A
- CIRMi985-A
- CIRMi999-A
- FAMRCi014-A
- HMUCPi001-A
- IBBISTi005-A
- IBBISTi005-B
- IBBISTi006-A
- IBBISTi006-B
- IBBISTi007-A
- IBBISTi007-B
- IBBISTi008-A
- IBBISTi008-B
- IBBISTi009-A
- IBBISTi009-B
- IBBISTi010-A
- IBBISTi011-A
- IBBISTi012-A
- IBBISTi013-A
- ICGi019-A
- ICGi019-B
- ICGi019-B-1
- ICGi019-B-2
- ICGi028-A
- ICGi029-A
- ICGi029-A-1
- ICGi029-A-2
- ICGi029-A-3
- ICGi047-A
- SCVIi074-A
- SCVIi096-A
- SCVIi097-A
- SCVIi098-A
- SCVIi099-A
- WAe009-A-1H
- WAe009-A-1Y
- WAe009-A-2P
- YCMi006-A
- ZZUNEUi028-A
-
hypertrophic cardiomyopathy
Show synonymsOntology Lookup ServiceA condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.; A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular [...]
-
hypertrophic cardiomyopathy 14
Show synonymsOntology Lookup ServiceA familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.
Associated cell lines:
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Hypomyelination with atrophy of basal ganglia and cerebellum
Show synonymsOntology Lookup ServiceA rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Associated cell lines:
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Hypophosphatasia
Show synonymsOntology Lookup ServiceA rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.
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Hypoplasia of the optic nerve
Ontology Lookup ServiceAssociated cell lines:
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hypoplastic left heart syndrome
Show synonymsOntology Lookup ServiceHypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.; prototype_pattern
Associated cell lines:
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Hypoplastic left heart syndrome
Show synonymsOntology Lookup ServiceA rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.
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Idiopathic Pulmonary Fibrosis
Show synonymsOntology Lookup ServiceChronic and progressive fibrosis of the lung parenchyma of unknown cause.
Associated cell lines:
- CIRMi544-A
- CIRMi545-A
- CIRMi546-A
- CIRMi547-A
- CIRMi548-A
- CIRMi549-A
- CIRMi550-A
- CIRMi551-A
- CIRMi552-A
- CIRMi553-A
- CIRMi554-A
- CIRMi555-A
- CIRMi556-A
- CIRMi557-A
- CIRMi558-A
- CIRMi559-A
- CIRMi560-A
- CIRMi561-A
- CIRMi562-A
- CIRMi563-A
- CIRMi564-A
- CIRMi565-A
- CIRMi566-A
- CIRMi567-A
- CIRMi568-A
- CIRMi569-A
- CIRMi570-A
- CIRMi571-A
- CIRMi572-A
- CIRMi573-A
- CIRMi574-A
- CIRMi575-A
- CIRMi576-A
- CIRMi577-A
- CIRMi578-A
- CIRMi579-A
- CIRMi580-A
- CIRMi581-A
- CIRMi582-A
- CIRMi583-A
- CIRMi584-A
- CIRMi585-A
- CIRMi586-A
- CIRMi587-A
- CIRMi588-A
- CIRMi589-A
- CIRMi590-A
- CIRMi591-A
- CIRMi592-A
- CIRMi593-A
- CIRMi594-A
- CIRMi595-A
- CIRMi596-A
- CIRMi597-A
- CIRMi598-A
- CIRMi599-A
- CIRMi600-A
- CIRMi601-A
- CIRMi602-A
- CIRMi603-A
- CIRMi604-A
- CIRMi605-A
- CIRMi606-A
- CIRMi607-A
- CIRMi608-A
- CIRMi609-A
- CIRMi610-A
- CIRMi611-A
- CIRMi612-A
- CIRMi613-A
- CIRMi614-A
- CIRMi615-A
- CIRMi616-A
- CIRMi617-A
- CIRMi618-A
- CIRMi619-A
- CIRMi620-A
- CIRMi621-A
- CIRMi622-A
- CIRMi623-A
- CIRMi624-A
- CIRMi625-A
- CIRMi626-A
- CIRMi627-A
- CIRMi628-A
- CIRMi629-A
- CIRMi630-A
- CIRMi631-A
- CIRMi632-A
- CIRMi633-A
- CIRMi634-A
- CIRMi635-A
- CIRMi636-A
- CIRMi637-A
- CIRMi638-A
- CIRMi639-A
- CIRMi640-A
- CIRMi641-A
- CIRMi642-A
- CIRMi643-A
- CIRMi644-A
- CIRMi645-A
- CIRMi646-A
- CIRMi647-A
- CIRMi648-A
- CIRMi649-A
- CIRMi650-A
- CIRMi651-A
- CIRMi652-A
- CIRMi653-A
- CIRMi654-A
- CIRMi655-A
- CIRMi656-A
- CIRMi657-A
- CIRMi658-A
- CIRMi659-A
- CIRMi660-A
- CIRMi661-A
- CIRMi662-A
- CIRMi663-A
- CIRMi664-A
- CIRMi665-A
- CIRMi666-A
- CIRMi667-A
- CIRMi668-A
- CIRMi669-A
- CIRMi670-A
- CIRMi671-A
- CIRMi672-A
- CIRMi673-A
- CIRMi674-A
- CIRMi675-A
- CIRMi676-A
- CIRMi677-A
- CIRMi678-A
- CIRMi679-A
- CIRMi680-A
- CIRMi681-A
- CIRMi682-A
- CIRMi683-A
- CIRMi684-A
- CIRMi685-A
- CIRMi686-A
- CIRMi687-A
- CIRMi688-A
- CIRMi689-A
- CIRMi690-A
- CIRMi691-A
- CIRMi692-A
- CIRMi693-A
- CIRMi694-A
- CIRMi695-A
- CIRMi696-A
- CIRMi697-A
- CIRMi698-A
- CIRMi699-A
- CIRMi700-A
- CIRMi701-A
- CIRMi702-A
- CIRMi703-A
- CIRMi704-A
- CIRMi705-A
- CIRMi706-A
- CIRMi707-A
- CIRMi708-A
- CIRMi709-A
- CIRMi710-A
- CIRMi711-A
- CIRMi712-A
- CIRMi713-A
- CIRMi714-A
- CIRMi715-A
- CIRMi716-A
- CIRMi717-A
- CIRMi718-A
- CIRMi719-A
- CIRMi720-A
- CIRMi721-A
- CIRMi722-A
- CIRMi723-A
- CIRMi724-A
- CIRMi725-A
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Idiopathic Pulmonary Hypertension
Show synonymsOntology Lookup ServiceIncreased blood pressure in the arteries of the lungs; the etiology is unknown.
Associated cell lines:
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IGA glomerulonephritis
Show synonymsOntology Lookup ServiceA chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease.; Inflammation of a specific segment of glomeruli within the kidney.
Associated cell lines:
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immune system disease
Show synonymsOntology Lookup ServiceA disorder resulting from an abnormality in the immune system.; A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and [...]
Associated cell lines:
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Immunodeficiency
Show synonymsOntology Lookup ServiceA disorder in which the immune system is unable to mount an adequate immune response.
Associated cell lines:
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Immunodeficiency 14A, Autosomal Dominant
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.
Associated cell lines:
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Inclusion Body Myositis
Show synonymsOntology Lookup ServiceAn acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues.
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Infertility
Show synonymsOntology Lookup ServiceInability to produce live offspring.
Associated cell lines:
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Infertility
Show synonymsOntology Lookup ServiceInability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Associated cell lines:
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Inflammatory Bowel Disease
Show synonymsOntology Lookup ServiceA spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.
Associated cell lines:
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inflammatory disease
Show synonymsOntology Lookup ServiceA disease involving a pathogenic inflammatory response in the anatomical structure.
Associated cell lines:
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Inherited arrhythmogenic cardiomyopathy
Show synonymsOntology Lookup ServiceA 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.
Associated cell lines:
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intellectual developmental disorder 61
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Intellectual disability
Show synonymsOntology Lookup ServiceIntellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.; This term should be used for children who are at least five years old. For younger children, consider using the term Global developmental delay (HP:0001263).
Associated cell lines:
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Intellectual Disability
Show synonymsOntology Lookup ServiceA broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
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Intermediate epidermolysis bullosa simplex with cardiomyopathy
Show synonymsOntology Lookup ServiceA rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular [...]
Associated cell lines:
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ischemia reperfusion injury
Show synonymsOntology Lookup ServiceAdverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.; Some of the known risk factors for cardiovascular disease (hypercholesterolaemia, hypertension, and diabetes) appear to exaggerate many of the microvascular alterations [...]
Associated cell lines:
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Johanson-Blizzard syndrome
Show synonymsOntology Lookup ServiceA multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Associated cell lines:
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Joubert syndrome
Show synonymsOntology Lookup ServiceJoubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Associated cell lines:
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Joubert Syndrome
Show synonymsOntology Lookup ServiceA rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.
Associated cell lines:
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Joubert syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
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Joubert syndrome 5
Show synonymsOntology Lookup ServiceAny Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Associated cell lines:
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Juvenile amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceJuvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.
Associated cell lines:
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Juvenile Huntington disease
Show synonymsOntology Lookup ServiceJuvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.
Associated cell lines:
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Juvenile Myelomonocytic Leukemia
Show synonymsOntology Lookup ServiceA clonal myeloid disorder of childhood previously classified as myelodysplastic/myeloproliferative neoplasm. It is characterized by the presence of monocytic proliferation in peripheral blood, less than 20% blasts in bone marrow and peripheral blood, splenomegaly, and the absence of BCR-ABL1 fusion. Almost all patients carry mutations of the RAS pathway.
Associated cell lines:
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Kabuki Syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.
Associated cell lines:
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Kabuki syndrome
Show synonymsOntology Lookup ServiceA rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad [...]
Associated cell lines:
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karyomegalic interstitial nephritis
Show synonymsOntology Lookup ServiceAn interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.
Associated cell lines:
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KCNQ2-related epileptic encephalopathy
Show synonymsOntology Lookup ServiceKCNQ2-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 [...]
Associated cell lines:
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Keipert syndrome
Show synonymsOntology Lookup ServiceA rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have [...]
Associated cell lines:
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Kennedy disease
Show synonymsOntology Lookup ServiceKennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
Associated cell lines:
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Keratoconjunctivitis sicca
Show synonymsOntology Lookup ServiceDryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Associated cell lines:
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kidney disorder
Show synonymsOntology Lookup ServiceA disease involving the kidney.
Associated cell lines:
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KIT NP_000213.1:p.D816V
Show synonymsOntology Lookup ServiceA change in the amino acid residue at position 816 in the mast/stem cell growth factor receptor Kit protein where aspartic acid has been replaced by valine.
Associated cell lines:
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Kleefstra Syndrome
Show synonymsOntology Lookup ServiceA condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.
Associated cell lines:
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Klinefelter syndrome
Show synonymsOntology Lookup ServiceA chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.; No OMIM mapping, confirmed by DO. [LS].
Associated cell lines:
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Klinefelter's syndrome
Show synonymsOntology Lookup ServiceA form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype [...]
Associated cell lines:
- CRICKi024-A
- CRICKi024-B
- CRICKi024-C
- CRICKi024-D
- CRICKi024-E
- CRICKi024-F
- CRICKi024-G
- CRICKi024-H
- CRICKi024-I
- KAUSTi001-A
- KAUSTi001-B
- KAUSTi003-A
- KAUSTi006-A
- KAUSTi006-B
- KAUSTi007-A
- KAUSTi007-B
- KAUSTi008-A
- KAUSTi008-B
- KAUSTi008-C
- KAUSTi008-D
- KAUSTi008-E
- KAUSTi008-F
- KAUSTi008-G
- KAUSTi009-A
- KAUSTi009-B
- KAUSTi010-A
- KAUSTi010-B
-
Knobloch syndrome
Show synonymsOntology Lookup ServiceA rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.
Associated cell lines:
-
Krabbe disease
Show synonymsOntology Lookup ServiceA rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).
Associated cell lines:
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Lafora Disease
Show synonymsOntology Lookup ServiceA rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.
Associated cell lines:
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laminin alpha 2-related dystrophy
Show synonymsOntology Lookup ServiceLlaminin alpha 2-related dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.
Associated cell lines:
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Laminopathy
Ontology Lookup ServiceAssociated cell lines:
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late-onset Alzheimer's disease
Show synonymsOntology Lookup ServiceThis is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers haven’t found a particular gene that causes it. No one knows for sure why some people get it and others don’t.
Associated cell lines:
- CIRMi004-A
- CIRMi009-A
- CIRMi011-A
- CIRMi018-A
- CIRMi019-A
- CIRMi020-A
- CIRMi021-A
- CIRMi022-A
- CIRMi031-A
- CIRMi032-A
- CIRMi033-A
- CIRMi035-A
- CIRMi043-A
- CIRMi045-A
- CIRMi046-A
- CIRMi052-A
- CIRMi055-A
- CIRMi056-A
- CIRMi057-A
- CIRMi059-A
- CIRMi062-A
- CIRMi064-A
- CIRMi066-A
- CIRMi067-A
- CIRMi073-A
- CIRMi074-A
- CIRMi077-A
- CIRMi081-A
- CIRMi083-A
- CIRMi084-A
- CIRMi091-A
- CIRMi092-A
- CIRMi093-A
- CIRMi094-A
- CIRMi095-A
- CIRMi096-A
- CIRMi097-A
- CIRMi098-A
- CIRMi099-A
- CIRMi100-A
- CIRMi103-A
- CIRMi109-A
- CIRMi114-A
- CIRMi115-A
- CIRMi127-A
- CIRMi129-A
- CIRMi131-A
- CIRMi138-A
- CIRMi144-A
- CIRMi153-A
- CIRMi163-A
- CIRMi168-A
- CIRMi172-A
- CIRMi173-A
- CIRMi174-A
- CIRMi176-A
- CIRMi177-A
- CIRMi178-A
- CIRMi179-A
- CIRMi180-A
- CIRMi181-A
- CIRMi182-A
- CIRMi184-A
- CIRMi185-A
- CIRMi186-A
- CIRMi187-A
- CIRMi189-A
- CIRMi190-A
- CIRMi191-A
- CIRMi192-A
- CIRMi193-A
- CIRMi194-A
- CIRMi195-A
- CIRMi196-A
- CIRMi197-A
- CIRMi198-A
- CIRMi199-A
- CIRMi200-A
- CIRMi201-A
- CIRMi202-A
- CIRMi204-A
- CIRMi205-A
- CIRMi206-A
- CIRMi207-A
- CIRMi209-A
- CIRMi211-A
- CIRMi212-A
- CIRMi213-A
- CIRMi214-A
- CIRMi215-A
- CIRMi216-A
- CIRMi217-A
- CIRMi218-A
- CIRMi219-A
- CIRMi220-A
- CIRMi222-A
- CIRMi223-A
- CIRMi224-A
- CIRMi225-A
- CIRMi226-A
- CIRMi227-A
- CIRMi228-A
- CIRMi229-A
- CIRMi230-A
- DRICUi002-A
- DRICUi003-A
- DRICUi004-A
- DRICUi006-A
- DRICUi007-A
- DRICUi010-A
- DRICUi011-A
- DRICUi012-A
- DRICUi013-A
- DRICUi016-A
- DRICUi017-A
- DRICUi018-A
- DRICUi019-A
- DRICUi023-A
- DRICUi027-A
- DRICUi028-A
- DRICUi029-A
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Leber congenital amaurosis
Show synonymsOntology Lookup ServiceA retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.; Xref MGI. OMIM mapping confirmed by DO. [SN].
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Leber Congenital Amaurosis
Show synonymsOntology Lookup ServiceA congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.
Associated cell lines:
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Leber congenital amaurosis 12
Show synonymsOntology Lookup ServiceAny Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.
Associated cell lines:
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Leber congenital amaurosis 2
Show synonymsOntology Lookup ServiceA Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.
Associated cell lines:
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Leber congenital amaurosis 2
Show synonymsOntology Lookup ServiceAny Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.
Associated cell lines:
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Leber hereditary optic neuropathy
Show synonymsOntology Lookup ServiceOMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Leber hereditary optic neuropathy
Show synonymsOntology Lookup ServiceA rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.
Associated cell lines:
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Left bundle branch block
Ontology Lookup ServiceA conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
Associated cell lines:
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Left Bundle Branch Block Artifact
Show synonymsOntology Lookup ServiceAn imaging artifact resulting from a patient left bundle branch block.
Associated cell lines:
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Left Ventricular Non-Compaction Syndrome
Show synonymsOntology Lookup ServiceAn uncommon congenital abnormality where the left ventricular myocardium fails to compact during embryonic development, leading to cardiomyopathy with a variable degree of ventricular dysfunction. There is genetic heterogeneity and phenotypic variability. Characteristically, there are typically deep trabeculations in the noncompacted area, with varying proportions of the LV myocardium compacted. LV noncompaction is associated with rhythm [...]
Associated cell lines:
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Left ventricular noncompaction cardiomyopathy
Show synonymsOntology Lookup ServiceLeft ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.; Left ventricular noncompaction cardiomyopathy (LVNC), also known as [...]
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Leigh Disease
Show synonymsOntology Lookup ServiceAn inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.
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Leigh syndrome
Show synonymsOntology Lookup ServiceA progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
Associated cell lines:
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Leigh syndrome
Show synonymsOntology Lookup ServiceA progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
Associated cell lines:
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Lennox-Gastaut Syndrome
Show synonymsOntology Lookup ServiceA syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems.
Associated cell lines:
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Lesch-Nyhan Syndrome
Show synonymsOntology Lookup ServiceAn X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).
Associated cell lines:
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Lesch-Nyhan syndrome
Show synonymsOntology Lookup ServiceLesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
Associated cell lines:
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Lethal brain and heart developmental defects
Ontology Lookup ServiceA rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.
Associated cell lines:
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lethal congenital contracture syndrome 1
Show synonymsOntology Lookup ServiceLethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, [...]
Associated cell lines:
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Leukemia
Show synonymsOntology Lookup ServiceA malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include [...]
Associated cell lines:
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Leukocyte Adhesion Deficiency Type 1
Show synonymsOntology Lookup ServiceA rare immunodeficiency with an autosomal recessive pattern of inheritance. It is caused by mutation in the ITGB2 gene on chromosome 21 which codes for the beta subunit of beta-2 integrin (CD18). The mutation results in significantly reduced or absent expression of CD18 on the surface of leukocytes which impairs their ability to migrate and interact with antigens. Initial clinical signs include omphalitis and delayed separation of the umbilical [...]
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Leukodystrophy
Show synonymsOntology Lookup ServiceA group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and [...]
Associated cell lines:
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leukodystrophy, hypomyelinating, 22
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Show synonymsOntology Lookup ServiceThis disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Associated cell lines:
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Li-Campeau syndrome
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Li-Fraumeni Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.
Associated cell lines:
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limb-girdle muscular dystrophy
Show synonymsOntology Lookup ServiceA muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Limb-Girdle Muscular Dystrophy Type 2B
Show synonymsOntology Lookup ServiceAn autosomal recessive condition caused by mutation(s) in the DYSF gene, encoding dysferlin. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
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Lissencephaly
Show synonymsOntology Lookup ServiceA rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.
Associated cell lines:
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Loeys-Dietz Syndrome
Show synonymsOntology Lookup ServiceA genetically heterogenous syndrome characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones.
Associated cell lines:
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Loeys-Dietz syndrome 1
Show synonymsOntology Lookup ServiceA rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.
Associated cell lines:
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Loeys-Dietz syndrome 3
Show synonymsOntology Lookup ServiceA Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.
Associated cell lines:
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Loeys-Dietz syndrome 5
Show synonymsOntology Lookup ServiceA Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
Associated cell lines:
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long QT syndrome
Show synonymsOntology Lookup ServiceAn autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Long QT Syndrome
Show synonymsOntology Lookup ServiceA ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may [...]
Associated cell lines:
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Long QT Syndrome 1
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Associated cell lines:
- LUMCi039-A
- MRIi005-A
- NUIGi005-A
- NUIGi005-B
- NUIGi005-C
- NUIGi006-A
- NUIGi006-B
- NUIGi006-C
- NUIGi007-A
- NUIGi007-B
- NUIGi008-A
- NUIGi008-B
- NUIGi008-C
- NUIGi009-A
- NUIGi009-B
- NUIGi009-C
- NUIGi010-A
- NUIGi010-B
- NUIGi010-C
- NUIGi011-A
- NUIGi011-B
- NUIGi011-C
- SCVIi110-A
- SCVIi111-A
- TAUi006-A
- TAUi006-B
- TAUi007-A
- TAUi007-B
- UCSDi001-A-1
- UCSDi001-A-4
- WAe009-A-1D
- WAe009-A-62
- WAe009-A-79
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long QT syndrome 2
Show synonymsOntology Lookup ServiceA long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.
Associated cell lines:
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Long QT Syndrome 2
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Associated cell lines:
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Long QT Syndrome 3
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Associated cell lines:
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Long QT Syndrome 8
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
Associated cell lines:
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Loss of Function Gene Mutation
Show synonymsOntology Lookup ServiceA change in the nucleotide sequence of a gene that results in decreased expression or activity for the encoded protein.
Associated cell lines:
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Lubs X-Linked Mental Retardation Syndrome
Show synonymsOntology Lookup ServiceAn X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.
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Lujan-Fryns syndrome
Show synonymsOntology Lookup ServiceThe Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Associated cell lines:
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lung cancer
Show synonymsOntology Lookup ServiceA respiratory system cancer that is located_in the lung.
Associated cell lines:
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lung cancer
Show synonymsOntology Lookup ServiceA malignant neoplasm involving the lung.
Associated cell lines:
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Lung Squamous Cell Carcinoma
Show synonymsOntology Lookup ServiceA carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with [...]
Associated cell lines:
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Lymphedema-Distichiasis Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis.
Associated cell lines:
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LYN Gene Mutation
Show synonymsOntology Lookup ServiceA change in the nucleotide sequence of the LYN gene.
Associated cell lines:
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Lynch syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency [...]
Associated cell lines:
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Machado-Joseph disease
Show synonymsOntology Lookup ServiceAn autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Machado-Joseph Disease
Ontology Lookup ServiceAssociated cell lines:
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macular corneal dystrophy
Show synonymsOntology Lookup ServiceA corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
Associated cell lines:
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macular degeneration
Show synonymsOntology Lookup ServiceA retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.; Xref MGI.
Associated cell lines:
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Macular dystrophy
Ontology Lookup ServiceMacular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Associated cell lines:
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MADD
Ontology Lookup ServiceMAP-kinase activating death domain; Other designations: MAP kinase-activating death domain protein|Rab3 GDP/GTP exchange factor|differentially expressed in normal and neoplastic cells|insulinoma glucagonoma clone 20
Associated cell lines:
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major depressive disorder
Show synonymsOntology Lookup ServiceAn episode of depression lasting two or more weeks without an intervening episode of mania.
Associated cell lines:
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Marfan Syndrome
Show synonymsOntology Lookup ServiceA genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Associated cell lines:
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Marfan syndrome
Show synonymsOntology Lookup ServiceMarfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Associated cell lines:
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Maroteaux-Lamy Syndrome
Show synonymsOntology Lookup ServiceA rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.
Associated cell lines:
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maternally-inherited diabetes and deafness
Show synonymsOntology Lookup ServiceMaternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.
Associated cell lines:
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maternally-inherited Leigh syndrome
Show synonymsOntology Lookup ServiceMaternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
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maturity-onset diabetes of the young type 10
Show synonymsOntology Lookup ServiceA maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.
Associated cell lines:
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maturity-onset diabetes of the young type 2
Show synonymsOntology Lookup ServiceA maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.
Associated cell lines:
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Medulloblastoma
Show synonymsOntology Lookup ServiceA malignant, invasive embryonal neoplasm arising from the cerebellum or posterior fossa. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma [...]
Associated cell lines:
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Meester-Loeys syndrome
Show synonymsOntology Lookup ServiceA syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
Associated cell lines:
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mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Show synonymsOntology Lookup ServiceA syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13.
Associated cell lines:
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megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Ontology Lookup ServiceMegacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014).
Associated cell lines:
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Meier-Gorlin syndrome 1
Show synonymsOntology Lookup ServiceAny Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.
Associated cell lines:
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melanoma
Show synonymsOntology Lookup ServiceA cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
Associated cell lines:
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Meniere disease
Show synonymsOntology Lookup ServiceA disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.; A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Associated cell lines:
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Mental Retardation
Show synonymsOntology Lookup ServiceA developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.
Associated cell lines:
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Mental Retardation, Autosomal Dominant 39
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.
Associated cell lines:
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Mental Retardation, Autosomal Dominant 5
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder.
Associated cell lines:
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Microcephaly-capillary malformation syndrome
Show synonymsOntology Lookup ServiceMicrocephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
Associated cell lines:
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migraine disorder
Show synonymsOntology Lookup ServiceA common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.
Associated cell lines:
- STBCi027-A
- STBCi027-B
- STBCi028-A
- STBCi028-B
- STBCi028-C
- STBCi029-A
- STBCi029-B
- STBCi030-A
- STBCi030-B
- STBCi031-A
- STBCi031-B
- STBCi031-C
- STBCi034-A
- STBCi034-B
- STBCi046-A
- STBCi046-B
- STBCi055-A
- STBCi055-B
- STBCi055-C
- STBCi141-A
- STBCi253-A
- STBCi255-A
- STBCi257-A
- STBCi260-A
- STBCi261-A
- STBCi262-A
- STBCi263-A
- STBCi311-A
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Mild Cognitive Impairment
Ontology Lookup ServiceAssociated cell lines:
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MIRAGE syndrome
Show synonymsOntology Lookup ServiceA rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted [...]
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mitochondrial disease
Ontology Lookup Service -
Mitochondrial disease
Ontology Lookup ServiceAssociated cell lines:
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mitochondrial DNA depletion syndrome
Show synonymsOntology Lookup ServiceA mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
Associated cell lines:
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Mitochondrial DNA depletion syndrome, myopathic form
Show synonymsOntology Lookup ServiceA rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.
Associated cell lines:
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mitochondrial encephalomyopathy
Ontology Lookup ServiceA heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Associated cell lines:
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Mitochondrial membrane protein-associated neurodegeneration
Show synonymsOntology Lookup ServiceA rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.
Associated cell lines:
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Mitochondrial pyruvate carrier deficiency
Ontology Lookup ServiceA rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive [...]
Associated cell lines:
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Mitral Valve Prolapse
Show synonymsOntology Lookup ServiceA fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.
Associated cell lines:
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MODY
Show synonymsOntology Lookup ServiceMODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Associated cell lines:
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monogenic diabetes
Show synonymsOntology Lookup ServiceDiabetes mellitus that is caused by mutations in a single gene.; Monogenic diabetes is any form of rare diabetes mellitus that can be attributed to a single genetic factor (rather than the more common polygenic autoimmune varieties). The age of onset of monogenic diabetes is wide ranging, from neonatal all the way through to adult although most cases occur before the onset of adulthood.
Associated cell lines:
- WTSIi192-A
- WTSIi193-A
- WTSIi194-A
- WTSIi195-A
- WTSIi195-B
- WTSIi196-A
- WTSIi197-A
- WTSIi198-A
- WTSIi199-A
- WTSIi200-A
- WTSIi201-A
- WTSIi202-A
- WTSIi203-A
- WTSIi204-A
- WTSIi204-B
- WTSIi205-A
- WTSIi396-A
- WTSIi398-A
- WTSIi400-A
- WTSIi401-A
- WTSIi408-A
- WTSIi408-B
- WTSIi409-A
- WTSIi410-A
- WTSIi410-B
- WTSIi416-A
- WTSIi416-B
- WTSIi417-A
- WTSIi417-B
- WTSIi424-A
- WTSIi424-B
- WTSIi428-A
- WTSIi430-A
- WTSIi430-B
- WTSIi431-A
- WTSIi436-A
- WTSIi438-A
- WTSIi439-A
- WTSIi444-A
- WTSIi445-A
- WTSIi475-A
- WTSIi475-B
- WTSIi477-A
- WTSIi635-A
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monogenic disease
Ontology Lookup ServiceA genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
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Morquio Syndrome
Show synonymsOntology Lookup ServiceA rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.
Associated cell lines:
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Mowat-Wilson syndrome
Show synonymsOntology Lookup ServiceMowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
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Moyamoya Disease
Show synonymsOntology Lookup ServiceA rare inherited vascular disorder characterized by constriction of arteries at the base of the brain, resulting in the formation of collateral circulation in order to compensate for the constriction. The name "moyamoya" in Japanese means "puff of smoke" and derives from the characteristic radiographic appearance of the collateral vessels.
Associated cell lines:
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Mucolipidosis type II
Show synonymsOntology Lookup ServiceA rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.
Associated cell lines:
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Mucopolysaccharidosis II
Ontology Lookup ServiceAssociated cell lines:
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mucopolysaccharidosis type IIIB
Show synonymsOntology Lookup ServiceA mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
Associated cell lines:
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Mucopolysaccharidosis Type IVB
Show synonymsOntology Lookup ServiceA rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
Associated cell lines:
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Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Show synonymsOntology Lookup ServiceA rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the [...]
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Multiple Acyl-CoA Dehydrogenase Deficiency
Show synonymsOntology Lookup ServiceA rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes.
Associated cell lines:
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multiple endocrine neoplasia type 1
Show synonymsOntology Lookup ServiceMultiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
Associated cell lines:
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multiple myeloma
Show synonymsOntology Lookup ServiceA bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)
Associated cell lines:
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Multiple Osteochondromas
Show synonymsOntology Lookup ServiceAn autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.
Associated cell lines:
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Multiple Sclerosis
Show synonymsOntology Lookup ServiceA progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.
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Muscle filaminopathy
Show synonymsOntology Lookup ServiceMuscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. [...]
Associated cell lines:
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Muscle Hypotonia
Ontology Lookup ServiceAssociated cell lines:
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Muscular Dystrophy
Show synonymsOntology Lookup ServiceA group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.
Associated cell lines:
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Myeloid Leukemia, Philadelphia-Positive
Show synonymsOntology Lookup ServiceMyeloid leukemia characterized by the presence of Philadelphia chromosome.
Associated cell lines:
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MYH7-related skeletal myopathy
Show synonymsOntology Lookup ServiceLaing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.
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MYH9-related disease
Show synonymsOntology Lookup ServiceMYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as [...]
Associated cell lines:
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myocardial infarction
Show synonymsOntology Lookup ServiceGross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.; NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).
Associated cell lines:
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myoclonic epilepsy
Show synonymsOntology Lookup ServiceA clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Associated cell lines:
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myofibrillar myopathy 1
Show synonymsOntology Lookup ServiceA 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 [...]
Associated cell lines:
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myofibrillar myopathy 6
Show synonymsOntology Lookup ServiceA myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
Associated cell lines:
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myofibrillar myopathy 6
Show synonymsOntology Lookup ServiceSelcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
Associated cell lines:
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myopathy
Show synonymsOntology Lookup ServiceA disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.; A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
Associated cell lines:
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myotonic dystrophy type 1
Show synonymsOntology Lookup ServiceA myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.; OMIM mapping confirmed by DO. [SN].
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myotonic dystrophy type 1
Show synonymsOntology Lookup ServiceSteinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.
Associated cell lines:
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NARP syndrome
Show synonymsOntology Lookup ServiceA clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
Associated cell lines:
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Nasu-Hakola disease
Show synonymsOntology Lookup ServiceNasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
Associated cell lines:
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nemaline myopathy
Show synonymsOntology Lookup ServiceA congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.; Xref MGI.
Associated cell lines:
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Nemaline myopathy
Show synonymsOntology Lookup ServiceNemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
Associated cell lines:
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neuroblastoma
Show synonymsOntology Lookup ServiceNeuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.; NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately [...]
Associated cell lines:
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Neurodegeneration
Show synonymsOntology Lookup ServiceProgressive loss of neural cells and tissue.
Associated cell lines:
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neurodegeneration with brain iron accumulation 4
Show synonymsOntology Lookup ServiceMitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, [...]
Associated cell lines:
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Neurodegeneration with Brain Iron Accumulation 5
Show synonymsOntology Lookup ServiceAn X-linked dominant condition caused by mutation(s) in the WDR45 gene, encoding WD repeat domain phosphoinositide-interacting protein 4. it is characterized by global developmental delay in early childhood, and subsequent dystonia and dementia in young adulthood.
Associated cell lines:
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Neurodevelopmental Disorder
Show synonymsOntology Lookup ServiceA childhood disorder that has a neurological basis and manifests as a developmental disability.
Associated cell lines:
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Neurodevelopmental disorder
Show synonymsOntology Lookup ServiceA behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.; A childhood disorder that has a neurological basis and manifests as a developmental disability.
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neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Show synonymsOntology Lookup ServiceNDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).
Associated cell lines:
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Neurodevelopmental Disorders
Ontology Lookup ServiceAssociated cell lines:
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neurofibromatosis
Ontology Lookup ServiceThis disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253).
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Neurofibromatosis
Show synonymsOntology Lookup ServiceAn autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, [...]
Associated cell lines:
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neurofibromatosis type 1
Show synonymsOntology Lookup ServiceA clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Associated cell lines:
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Neurofibromatosis Type 1
Show synonymsOntology Lookup ServiceThe most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop [...]
Associated cell lines:
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neuronal intranuclear inclusion disease
Show synonymsOntology Lookup ServiceNeuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
Associated cell lines:
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Neuronal Intranuclear Inclusion Disease
Show synonymsOntology Lookup ServiceA rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive [...]
Associated cell lines:
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neuropathy
Ontology Lookup ServiceA disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness.
Associated cell lines:
- STBCi017-A
- STBCi017-B
- STBCi017-C
- STBCi018-A
- STBCi018-B
- STBCi018-C
- STBCi035-A
- STBCi035-B
- STBCi035-C
- STBCi036-A
- STBCi037-A
- STBCi037-B
- STBCi037-C
- STBCi049-A
- STBCi049-B
- STBCi049-C
- STBCi050-A
- STBCi050-B
- STBCi050-C
- STBCi059-A
- STBCi059-B
- STBCi059-C
- STBCi060-A
- STBCi060-B
- STBCi060-C
- STBCi104-A
- STBCi124-A
- STBCi129-A
- STBCi139-A
- STBCi140-A
- STBCi144-A
- STBCi181-A
- STBCi182-A
- STBCi183-A
- STBCi184-A
- STBCi185-A
- STBCi195-A
- STBCi196-A
- STBCi197-A
- STBCi198-A
- STBCi213-A
- STBCi214-A
- STBCi223-A
- STBCi224-A
- STBCi225-A
- STBCi226-A
- STBCi227-A
- STBCi228-A
- STBCi230-A
- STBCi231-A
- STBCi232-A
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Nijmegen Breakage Syndrome
Show synonymsOntology Lookup ServiceA disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99)
Associated cell lines:
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NON RARE IN EUROPE: Hyperlipoproteinemia type 4
Show synonymsOntology Lookup ServiceA hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.
Associated cell lines:
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non-acquired combined pituitary hormone deficiency
Show synonymsOntology Lookup ServiceCongenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.
Associated cell lines:
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Non-specific early-onset epileptic encephalopathy
Show synonymsOntology Lookup ServiceA rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also [...]
Associated cell lines:
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Nonalcoholic Steatohepatitis
Show synonymsOntology Lookup ServiceFatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.
Associated cell lines:
- CIRMi06F-A
- CIRMi06H-A
- CIRMi06K-A
- CIRMi06L-A
- CIRMi06Q-A
- CIRMi07H-A
- CIRMi07J-A
- CIRMi07Z-A
- CIRMi08A-A
- CIRMi08S-A
- CIRMi09L-A
- CIRMi09M-A
- CIRMi09N-A
- CIRMi10B-A
- CIRMi10C-A
- CIRMi10N-A
- CIRMi10O-A
- CIRMi10P-A
- CIRMi10S-A
- CIRMi10T-A
- CIRMi10W-A
- CIRMi10Z-A
- CIRMi11A-A
- CIRMi11B-A
- CIRMi11D-A
- CIRMi11E-A
- CIRMi11G-A
- CIRMi11H-A
- CIRMi11J-A
- CIRMi11L-A
- CIRMi11M-A
- CIRMi11Q-A
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None
Show synonymsOntology Lookup ServiceNo person or thing, nobody, not any.
Associated cell lines:
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nonischemic cardiomyopathy
Show synonymsOntology Lookup ServiceForms of cardiomyopathy that are not related to known coronary artery disease.
Associated cell lines:
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Nonketotic hyperglycinemia
Ontology Lookup ServiceAssociated cell lines:
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Noonan Syndrome
Show synonymsOntology Lookup ServiceA genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
Associated cell lines:
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normal
Show synonymsOntology Lookup ServiceA quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average.
Associated cell lines:
- AAKIPSi001-A
- AAKIPSi002-A
- AAKIPSi003-A
- AAUe001-A
- ABCRIi001-A
- ABi001-A
- ABi002-A
- ABi004-A
- AHJNMUi001-A
- AHMUCNi002-A
- AHMUCNi004-A
- AHMUe001-A
- AHMUi001-A
- AHMUi004-A
- AHQUi001-A
- AHQUi001-A-1
- AIBNi015-A
- AIBNi016-A
- AIBNi017-A
- AIBNi018-A
- AMUFAHi001-A
- AMUFAHi002-A
- AMUFAHi003-A
- AOUMEYi002-A
- AOUMEYi003-A
- ASGRCi001-A
- ASGRCi002-A
- ASGRCi003-A
- ASGRCi004-A
- ASGRCi005-A
- ASGRCi006-A
- ASGRCi007-A
- ATCi002-A
- ATLABi001-A
- ATLABi002-A
- ATLABi003-A
- ATLABi004-A
- ATLABi005-A
- ATLABi006-A
- ATLABi007-A
- ATLABi008-A
- ATLABi009-A
- ATLABi010-A
- ATLABi011-A
- ATLABi012-A
- ATLABi013-A
- ATLABi014-A
- ATLABi015-A
- ATLABi016-A
- AUi001-A
- AUMCi001-A
- AUMCi002-A
- AUMCi003-A
- AUMCi004-A
- AUMCi005-A
- AUMCi006-A
- AUMCi007-A
- AUMCi008-A
- AUMCi009-A
- AUMCi010-A
- AUMCi010-B
- AUMCi010-C
- AUMCi010-D
- AUMCi010-E
- AUMCi010-F
- AUMCi011-A
- AUMCi011-B
- AUMCi011-C
- AUMCi011-D
- AUMCi011-E
- AUMCi011-F
- AUMCi012-A
- AUMCi012-B
- AUMCi012-C
- AUMCi012-D
- AUMCi012-E
- AUMCi012-F
- AUMCi013-A
- AUMCi013-B
- AUMCi013-C
- AUMCi013-D
- AUMCi013-E
- AUMCi013-F
- AUMCi014-A
- AUMCi014-B
- AUMCi014-C
- AUMCi014-D
- AUMCi014-E
- AUMCi014-F
- AUMCi014-G
- AUMCi014-H
- AUMCi014-I
- AUMCi014-J
- BAFYi001-A
- BBANTWi001-A
- BBANTWi001-B
- BBANTWi001-C
- BBANTWi006-A
- BBANTWi007-A
- BBANTWi008-A
- BBANTWi009-A
- BBANTWi010-A
- BBANTWi011-A
- BBANTWi012-A
- BBANTWi012-A-1
- BBANTWi012-A-2
- BBANTWi012-A-3
- BBANTWi012-A-4
- BBSSPAi001-A
- BBSSPAi002-A
- BCHi007-A
- BCHi007-A-1
- BCHi009-A
- BCHi009-A-1
- BCHi011-A
- BCHi011-A-1
- BCHi013-A
- BCHi013-A-1
- BCHi013-A-2
- BCHi013-A-3
- BCHi013-A-4
- BCHi014-A
- BCHi014-A-1
- BCHi014-A-2
- BCHi014-A-3
- BCHi014-A-4
- BCHi014-A-5
- BCHi014-A-6
- BCHi014-A-7
- BCHi014-A-8
- BCHi015-A
- BCHi015-A-1
- BCHi015-A-2
- BCHi015-A-3
- BCHi015-A-4
- BCHi015-A-5
- BCHi015-A-6
- BCHi016-A
- BCHi016-A-1
- BCHi016-A-2
- BCHi016-A-3
- BCHi016-A-4
- BCHi017-A
- BCHi017-A-1
- BCHi017-A-2
- BCHi017-A-3
- BCHi017-A-4
- BCHi017-A-5
- BCHi017-A-6
- BCHi018-A
- BCHi018-A-1
- BCHi018-A-2
- BCHi018-A-3
- BCHi018-A-4
- BCHi018-A-5
- BCHi018-A-6
- BCHi019-A
- BCHi019-A-1
- BCHi019-A-2
- BCHi019-A-3
- BCHi019-A-4
- BCHi019-A-5
- BCHi019-A-7
- BCHi020-A
- BCHi020-A-1
- BCHi020-A-2
- BCHi020-A-3
- BCHi020-A-4
- BCHi021-A
- BCHi021-A-1
- BCHi021-A-2
- BCHi021-A-3
- BCHi021-A-4
- BCHi021-A-5
- BCHi021-A-6
- BCHi022-A
- BCHi022-A-1
- BCHi022-A-2
- BCHi022-A-3
- BCHi022-A-4
- BCHi023-A
- BCHi023-A-1
- BCHi023-A-2
- BCHi023-A-3
- BCHi023-A-4
- BCHi024-A
- BCHi024-A-1
- BCHi024-A-2
- BCHi024-A-3
- BCHi024-A-4
- BCHi025-A
- BCHi025-A-1
- BCHi025-A-2
- BCHi025-A-3
- BCHi025-A-4
- BCHi026-A
- BCHi026-A-1
- BCHi026-A-2
- BCHi026-A-3
- BCHi026-A-4
- BCHi027-A
- BCHi027-A-1
- BCHi027-A-2
- BCHi027-A-3
- BCHi027-A-4
- BCHi027-A-5
- BCHi027-A-6
- BCHi028-A
- BCHi028-A-1
- BCHi028-A-2
- BCHi028-A-3
- BCHi028-A-4
- BCHi029-A
- BCHi029-B
- BCHi030-A
- BCHi030-B
- BCHi031-A
- BCHi031-A-1
- BCHi031-A-2
- BCHi031-A-3
- BCHi031-A-4
- BCHi032-A
- BCHi032-A-1
- BCHi032-A-2
- BCHi032-A-3
- BCHi033-A
- BCHi033-A-1
- BCHi033-A-2
- BCHi033-A-3
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Obesity
Show synonymsOntology Lookup ServiceHaving a high amount of body fat (body mass index [BMI] of 30 or more).
Associated cell lines:
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Obesity due to pro-opiomelanocortin deficiency
Show synonymsOntology Lookup ServicePro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
Associated cell lines:
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obsessive-compulsive disorder
Show synonymsOntology Lookup Service"A pathological anxiety primarily characterized by repetitive obsessions (distressing, persistent, and intrusive thoughts or images) and compulsions (urges to perform specific acts or rituals)." [wikipedia:Obsessive%E2%80%93compulsive_disorder]
Associated cell lines:
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obsessive-compulsive disorder
Show synonymsOntology Lookup ServiceA disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.; An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and [...]
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obsolete CLN3 disease
Ontology Lookup Service -
obsolete cytochrome-c oxidase deficiency disease
Show synonymsOntology Lookup ServiceA 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
Associated cell lines:
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obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy
Ontology Lookup ServiceA neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.
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obsolete Sotos syndrome 1
Ontology Lookup ServiceAny Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.; Reason: duplicate. This will be merged with MONDO:0019349 Sotos syndrome
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OBSOLETE: Genetic macular dystrophy
Ontology Lookup ServiceAssociated cell lines:
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OBSOLETE: Nuclear cell envelopathy
Ontology Lookup Service -
obsolete_Alzheimer's disease
Show synonymsOntology Lookup ServiceA degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of [...]
Associated cell lines:
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obsolete_amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceA degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons [...]
Associated cell lines:
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obsolete_bipolar disorder
Show synonymsOntology Lookup ServiceA major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).; A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
Associated cell lines:
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obsolete_multiple sclerosis
Show synonymsOntology Lookup ServiceAn autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The [...]
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obsolete_Parkinson's disease
Show synonymsOntology Lookup ServiceA neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.; A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of [...]
Associated cell lines:
- ESi040-A
- ICGi034-A
- ICGi034-A-1
- ICGi034-A-2
- ICGi034-A-3
- ICGi034-A-4
- ICGi034-B
- ICGi034-C
- ICGi034-D
- ICGi034-E
- LCPHi001-A
- LCSBi001-A
- MPIi002-A
- MPIi003-A
- MPIi003-A-1
- NIMHi001-A
- RCPCMi004-A
- RCPCMi005-A
- SUSMi005-A
- SUSMi005-A-1
- SUSMi005-A-2
- SUSMi005-A-3
- SUSMi005-A-4
- SUSMi005-A-5
- UHi004-A
- UHi004-B
- UHi005-A
- UHi005-B
- UKERi002-A
- UKERi003-A
- UKERi004-A
- ZZUi005-A
- ZZUi007-A
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obsolete_schizophrenia
Show synonymsOntology Lookup ServiceA major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.; A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and [...]
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obsolete_type I diabetes mellitus
Show synonymsOntology Lookup ServiceA subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.; An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of [...]
Associated cell lines:
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obsolete_unipolar depression
Show synonymsOntology Lookup ServiceA mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem [...]
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occult macular dystrophy
Show synonymsOntology Lookup ServiceOccult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms.
Associated cell lines:
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Oculocutaneous Albinism Type 1A
Show synonymsOntology Lookup ServiceOculocutaneous albinism inherited in an autosomal recessive pattern, and caused by mutation(s) in the TYR gene, encoding tyrosinase.
Associated cell lines:
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Oculopharyngodistal myopathy
Show synonymsOntology Lookup ServiceA rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are [...]
Associated cell lines:
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Ohdo syndrome
Show synonymsOntology Lookup ServiceA syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.; NT MGI.
Associated cell lines:
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Oligodendrocyte
Show synonymsOntology Lookup ServiceA type of large glial cell located in the central nervous system that produces myelin as its main function.
Associated cell lines:
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OPA1-related optic atrophy with or without extraocular features
Ontology Lookup ServiceAny primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, [...]
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Osteogenesis Imperfecta
Show synonymsOntology Lookup ServiceA group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.
Associated cell lines:
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osteogenesis imperfecta type 1
Show synonymsOntology Lookup ServiceAn osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Associated cell lines:
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otosclerosis
Show synonymsOntology Lookup ServiceFormation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.; Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to [...]
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P450 Oxidoreductase Deficiency
Show synonymsOntology Lookup ServiceDecreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene.
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pain agnosia
Show synonymsOntology Lookup ServiceAn agnosia that is a loss of the ability to perceive and process pain. Pain Agnosia, also known as analgesia, is related to chronic pain requiring intraspinal analgesia and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Pain Agnosia is OPRM1 (Opioid Receptor Mu 1), and among its related pathways are Syndecan-3-mediated signaling events and Peptide ligand-binding receptors. Related mouse phenotypes are [...]
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Parkinson disease
Show synonymsOntology Lookup ServiceA progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
Associated cell lines:
- EDi001-A
- EDi001-A-1
- EDi001-A-2
- EDi001-A-3
- EDi001-A-4
- EDi001-A-5
- EDi001-B
- EDi001-B-1
- EDi001-B-2
- EDi001-B-3
- EDi001-B-4
- EDi008-B
- ESi001-A
- ESi002-A
- ESi006-A
- ICGi053-A
- ICGi053-B
- ICGi053-C
- ICGi054-A
- ICGi054-B
- ICGi054-C
- ICGi054-D
- STBCi004-A
- STBCi004-B
- STBCi004-B-1
- STBCi004-C
- STBCi005-A
- STBCi005-B
- STBCi005-C
- STBCi007-A
- STBCi007-B
- STBCi007-C
- STBCi019-A
- STBCi019-B
- STBCi019-C
- STBCi023-A
- STBCi023-B
- STBCi023-C
- STBCi024-A
- STBCi024-B
- STBCi024-C
- STBCi025-A
- STBCi025-B
- STBCi025-C
- STBCi026-A-1
- STBCi026-A-2
- STBCi026-A-3
- STBCi040-A
- STBCi040-B
- STBCi040-C
- STBCi041-A
- STBCi041-B
- STBCi041-C
- STBCi042-A
- STBCi042-B
- STBCi042-C
- STBCi043-A
- STBCi043-B
- STBCi043-C
- STBCi067-A
- STBCi083-A
- STBCi083-B
- STBCi084-A
- STBCi084-B
- STBCi084-C
- STBCi085-A
- STBCi085-B
- STBCi085-C
- STBCi086-A
- STBCi086-B
- STBCi087-A
- STBCi087-B
- STBCi087-C
- STBCi088-A
- STBCi088-B
- STBCi088-C
- STBCi089-A
- STBCi089-B
- STBCi089-C
- STBCi090-A
- STBCi090-B
- STBCi258-A
- STBCi259-A
- STBCi265-A
- STBCi266-A
- STBCi267-A
- STBCi268-A
- STBCi278-A
- STBCi279-A
- STBCi280-A
- STBCi281-A
- STBCi282-A
- STBCi283-A
- STBCi288-A
- STBCi289-A
- STBCi290-A
- STBCi291-A
- STBCi292-A
- STBCi293-A
- STBCi294-A
- STBCi295-A
- STBCi295-B
- STBCi296-A
- STBCi297-A
- STBCi298-A
- STBCi303-A
- STBCi304-A
- STBCi305-A
- STBCi306-A
- STBCi307-A
- STBCi308-A
- STBCi309-A
- STBCi310-A
- STBCi320-A
- UOXFi001-A
- UOXFi001-B
- UOXFi001-C
- UOXFi001-D
- UOXFi002-A
- UOXFi002-B
- UOXFi003-A
- UOXFi003-C
- UOXFi007-A
- UOXFi007-B
- UOXFi007-C
- UOXFi008-A
- UOXFi008-B
- UOXFi008-C
- UOXFi009-A
- UOXFi009-B
- UOXFi009-C
- UOXFi010-A
- UOXFi010-B
- UOXFi010-C
- UOXFi010-D
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Parkinson Disease
Show synonymsOntology Lookup ServiceA progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
Associated cell lines:
- CBIGi001-A-1
- CBIGi001-A-10
- CBIGi001-A-11
- CBIGi001-A-12
- CBIGi001-A-13
- CBIGi001-A-14
- CBIGi001-A-15
- CBIGi001-A-16
- CBIGi001-A-17
- CBIGi001-A-18
- CBIGi001-A-2
- CBIGi001-A-21
- CBIGi001-A-24
- CBIGi001-A-25
- CBIGi001-A-26
- CBIGi001-A-28
- CBIGi001-A-3
- CBIGi001-A-30
- CBIGi001-A-33
- CBIGi001-A-34
- CBIGi001-A-35
- CBIGi001-A-39
- CBIGi001-A-4
- CBIGi001-A-40
- CBIGi001-A-41
- CBIGi001-A-42
- CBIGi001-A-43
- CBIGi001-A-44
- CBIGi001-A-45
- CBIGi001-A-5
- CBIGi001-A-8
- CBIGi001-A-9
- CBIGi002-A
- CBIGi002-A-1
- CBIGi003-A
- CBIGi003-A-1
- CBIGi005-A
- CBIGi006-A
- CBIGi006-A-1
- CBIGi007-A
- CBIGi007-A-1
- CBIGi007-A-2
- CBIGi008-A
- CBIGi009-A
- CBIGi009-A-1
- CBIGi009-B
- CBIGi013-A
- CBIGi013-A-1
- CBIGi015-A
- CBIGi016-A
- CBIGi021-A
- CBIGi027-A
- CBIGi027-A-1
- CBIGi029-A
- CBIGi030-A
- CBIGi031-A
- CBIGi036-A
- CBIGi037-A
- CBIGi039-A
- CBIGi039-A-1
- CBIGi040-A
- CBIGi041-A
- CBIGi041-A-1
- CBIGi042-A
- CBIGi042-A-1
- CBIGi044-A
- CBIGi044-A-1
- CBIGi044-A-2
- CBIGi045-A
- CBIGi050-A
- CDIi013-A
- CDIi014-A
- CDIi015-A
- CDIi017-A
- CDIi018-A
- CDIi019-A
- CDIi019-A-1
- CDIi019-A-2
- CDIi020-A
- CDIi021-A
- CDIi023-A
- CDIi024-A
- CDIi025-A
- CDIi026-A
- CDIi027-A
- CDIi028-A
- CDIi029-A
- CDIi031-A
- CDIi033-A
- CDIi034-A
- CDIi035-A
- CDIi036-A
- CDIi037-A
- CDIi038-A
- CDIi039-A
- CDIi040-A
- CDIi041-A
- CDIi042-A
- CDIi043-A
- CDIi044-A
- CDIi046-A
- CDIi047-A
- CDIi050-A
- CDIi050-A-1
- CDIi050-A-2
- CDIi052-A
- CDIi053-A
- CDIi054-A
- CDIi055-A
- CDIi056-A
- CDIi057-A
- CDIi058-A
- CDIi059-A
- CDIi060-A
- CDIi061-A
- CDIi062-A
- CDIi063-A
- CDIi064-A
- CDIi065-A
- CDIi066-A
- CDIi067-A
- CDIi068-A
- CDIi069-A
- CDIi071-A
- CDIi072-A
- CDIi073-A
- CDIi074-A
- CDIi075-A
- CDIi076-A
- CDIi077-A
- CDIi078-A
- CDIi079-A
- CDIi080-A
- CDIi081-A
- CDIi082-A
- CDIi083-A
- CDIi084-A
- CDIi085-A
- CDIi086-A
- CDIi087-A
- CDIi088-A
- CDIi089-A
- CDIi090-A
- CDIi091-A
- CDIi092-A
- CDIi093-A
- CDIi094-A
- CDIi095-A
- CDIi096-A
- CDIi097-A
- CDIi098-A
- CDIi099-A
- CDIi100-A
- CDIi101-A
- CDIi102-A
- CDIi103-A
- CDIi104-A
- CDIi105-A
- DANi002-C
- DANi003-H
- DANi004-A
- DANi005-A
- DANi006-F
- DANi007-A
- DANi008-F
- DANi009-C
- DANi010-A
- DANi011-A
- FINi002-A
- GIBHi002-A-1
- GIBHi003-A
- HEBHMUi001-A
- ICGi015-A
- ICGi015-B
- ICGi015-B-1
- ICGi015-B-2
- ICGi015-B-3
- ICGi023-A
- ICGi034-A-1
- ICGi034-A-2
- ICGi042-A
- ICGi042-B
- ICGi042-C
- ICGi043-A
- ICGi043-A-1
- ICGi043-B
- ICGi043-C
- ICGi044-A
- ICGi044-B
- ICGi044-C
- ICGi060-A
- JUCGRMi001-A
- JUCGRMi001-B
- JUCGRMi001-C
- JUCGRMi002-A
- JUCGRMi002-B
- JUCGRMi002-C
- JUCGRMi003-A
- LCPHi002-A
- LCPHi003-A
- LCSBi002-B
- LCSBi002-C
- LCSBi004-A
- LCSBi004-B
- LCSBi008-A
- LCSBi008-A-1
- LCSBi009-A
- LCSBi009-A-1
- LCSBi010-A
- LCSBi010-A-1
- LCSBi010-A-2
- LCSBi011-A
- LCSBi011-A-1
- LCSBi012-A
- LCSBi012-A-1
- LCSBi013-A
- LUEi014-A
- LUEi015-A
- LUEi017-A
- LUEi018-A
- NIMHi002-A
- NIMHi003-A
- OSRi001-A
- PNUSCRi001-A
- PNUSCRi002-A
- PNUSCRi004-A
- SHEHDNi002-A
- STBCi063-A-1
- STBCi324-A
- STBCi324-A-1
- TUSMi013-A
- TUSMi014-A
- UMi036-A
- UNAMi001-A
- UNAMi002-A
- UNAMi003-A
- UNIMGi009-A
- UNIMGi010-A
- UNIMGi011-A
- WAe001-A-76
- WIBRe001-A-10
- WIBRe001-A-11
- WIBRe001-A-12
- WIBRe001-A-13
- WIBRe001-A-15
- WIBRe001-A-16
- WIBRe001-A-17
- WIBRe001-A-18
- WIBRe001-A-19
- WIBRe001-A-20
- WIBRe001-A-21
- WIBRe001-A-22
- WIBRe001-A-23
- WIBRe001-A-24
- WIBRe001-A-25
- WIBRe001-A-26
- WIBRe001-A-27
- WIBRe001-A-28
- WIBRe001-A-32
- WIBRe001-A-33
- WIBRe001-A-34
- WIBRe001-A-35
- WIBRe001-A-36
- WIBRe001-A-37
- WIBRe001-A-38
- WIBRe001-A-39
- WIBRe001-A-4
- WIBRe001-A-40
- WIBRe001-A-41
- WIBRe001-A-42
- WIBRe001-A-43
- WIBRe001-A-44
- WIBRe001-A-45
- WIBRe001-A-46
- WIBRe001-A-47
- WIBRe001-A-48
- WIBRe001-A-49
- WIBRe001-A-5
- WIBRe001-A-50
- WIBRe001-A-51
- WIBRe001-A-52
- WIBRe001-A-53
- WIBRe001-A-54
- WIBRe001-A-55
- WIBRe001-A-56
- WIBRe001-A-57
- WIBRe001-A-58
- WIBRe001-A-59
- WIBRe001-A-6
- WIBRe001-A-60
- WIBRe001-A-61
- WIBRe001-A-62
- WIBRe001-A-63
- WIBRe001-A-64
- WIBRe001-A-65
- WIBRe001-A-66
- WIBRe001-A-67
- WIBRe001-A-68
- WIBRe001-A-69
- WIBRe001-A-7
- WIBRe001-A-71
- WIBRe001-A-72
- WIBRe001-A-73
- WIBRe001-A-74
- WIBRe001-A-75
- WIBRe001-A-76
- WIBRe001-A-77
- WIBRe001-A-78
- WIBRe001-A-79
- WIBRe001-A-8
- WIBRe001-A-80
- WIBRe001-A-81
- WIBRe001-A-82
- WIBRe001-A-83
- WIBRe001-A-84
- WIBRe001-A-9
- ZZUi027-A
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Parkinson Disease
Ontology Lookup ServiceAssociated cell lines:
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Parkinson's disease 6
Show synonymsOntology Lookup ServiceAn early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
Associated cell lines:
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Parkinson's disease 7
Show synonymsOntology Lookup ServiceAn early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
Associated cell lines:
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Paroxysmal atrial fibrillation
Show synonymsOntology Lookup ServiceEpisodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Associated cell lines:
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Paroxysmal ventricular tachycardia
Show synonymsOntology Lookup ServiceEpisodes of ventricular tachycardia that have a sudden onset and ending.
Associated cell lines:
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Patau syndrome
Show synonymsOntology Lookup ServiceOMIM mapping confirmed by DO. [LS].
Associated cell lines:
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Pattern dystrophy
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Pelizaeus-Merzbacher disease
Show synonymsOntology Lookup ServicePelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).
Associated cell lines:
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Pendred Syndrome
Show synonymsOntology Lookup ServiceA condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.
Associated cell lines:
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peripartum cardiomyopathy
Show synonymsOntology Lookup ServicePeripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.; Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. It develops during the last month of pregnancy, or within 5 months after the baby is born. Cardiomyopathy occurs when there is damage to the heart. As [...]
Associated cell lines:
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Peripheral Neuropathy
Show synonymsOntology Lookup ServiceA disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
Associated cell lines:
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periventricular nodular heterotopia
Show synonymsOntology Lookup ServicePeriventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous [...]
Associated cell lines:
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Phelan-McDermid syndrome
Show synonymsOntology Lookup ServiceA rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
Associated cell lines:
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Phelan-McDermid Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features.
Associated cell lines:
- BCHi021-A-1
- BCHi021-A-2
- BCHi021-A-3
- BCHi021-A-4
- BCHi021-A-5
- BCHi021-A-6
- BCHi040-A
- BCHi040-A-1
- BCHi040-A-2
- BCHi040-A-3
- BCHi040-A-4
- BCHi041-A
- BCHi041-A-1
- BCHi041-A-2
- BCHi041-A-3
- BCHi041-A-4
- BCHi043-A
- BCHi043-B
- BCHi044-A
- BCHi044-B
- BCHi047-A
- BCHi048-A
- CEBe033-A-2
- CEBe033-A-3
- CEBe033-A-4
- CEBe033-A-5
- CEBe033-A-6
- CEBe033-A-7
- UOHi003-A
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Phelan-McDermid syndrome
Ontology Lookup ServiceA rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Associated cell lines:
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phenylketonuria
Show synonymsOntology Lookup ServicePhenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Associated cell lines:
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Phenylketonuria
Show synonymsOntology Lookup ServiceAn autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.
Associated cell lines:
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Phosphoglycerate Kinase 1 Deficiency
Show synonymsOntology Lookup ServiceAn X-linked recessive inherited disorder caused by mutations in the PGK1 gene. Clinical manifestations include hemolytic anemia, myopathy, and neurologic involvement.
Associated cell lines:
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PMM2-CDG
Show synonymsOntology Lookup ServiceA rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations [...]
Associated cell lines:
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Polycystic Kidney Disease
Show synonymsOntology Lookup ServiceA usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may [...]
Associated cell lines:
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Polycystic Ovary Syndrome
Show synonymsOntology Lookup ServiceA disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.
Associated cell lines:
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polycystic ovary syndrome
Show synonymsOntology Lookup ServiceA disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.
Associated cell lines:
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Polycythemia Vera
Show synonymsOntology Lookup ServiceA chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage.
Associated cell lines:
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pontocerebellar hypoplasia type 1B
Show synonymsOntology Lookup ServiceAny non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
Associated cell lines:
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Prader-Willi syndrome
Show synonymsOntology Lookup ServiceA rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.
Associated cell lines:
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prediabetes syndrome
Show synonymsOntology Lookup ServiceA glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
Associated cell lines:
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Primary ciliary dyskinesia
Show synonymsOntology Lookup ServiceA rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
Associated cell lines:
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primary coenzyme Q10 deficiency 7
Show synonymsOntology Lookup ServiceA primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
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Primary cutaneous amyloidosis
Show synonymsOntology Lookup ServiceA rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.
Associated cell lines:
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Primary erythromelalgia
Show synonymsOntology Lookup ServicePrimary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
Associated cell lines:
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Primary hyperaldosteronism
Ontology Lookup ServiceA form of hyperaldosteronism caused by a defect within the adrenal gland.
Associated cell lines:
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Primary immunodeficiency
Ontology Lookup Service -
Primary Open Angle Glaucoma
Show synonymsOntology Lookup ServiceA form of glaucoma in which there is no visible abnormality in the trabecular meshwork.
Associated cell lines:
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primary progressive multiple sclerosis
Show synonymsOntology Lookup ServiceA multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
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primary progressive multiple sclerosis
Show synonymsOntology Lookup ServiceA multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
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primary progressive multiple sclerosis
Show synonymsOntology Lookup ServiceA multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.; Primary progressive multiple sclerosis is the form of the multiple sclerosis in which clinical disability progression occurs continuously without remissions.
Associated cell lines:
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prodromal period
Ontology Lookup ServiceA temporal part of a disease course that itself has a temporal part of becoming symptomatic, followed by another temporal part that is characterized by the organism experiencing mild, non-disease-specific symptoms.
Associated cell lines:
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progressive familial intrahepatic cholestasis type 3
Show synonymsOntology Lookup ServiceProgressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Associated cell lines:
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Progressive myoclonic epilepsy type 1
Show synonymsOntology Lookup ServiceA rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
Associated cell lines:
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Progressive supranuclear palsy
Show synonymsOntology Lookup ServiceA rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.
Associated cell lines:
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Prolidase Deficiency
Show synonymsOntology Lookup ServiceA rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.
Associated cell lines:
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proliferative diabetic retinopathy
Show synonymsOntology Lookup ServiceAdvanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.; Later stage of diabetic retinopathy, characterized by neovascularisation of the retina
Associated cell lines:
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propionic acidemia
Show synonymsOntology Lookup ServiceAn organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Propionic Acidemia
Show synonymsOntology Lookup ServiceA rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.
Associated cell lines:
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prostate adenocarcinoma
Show synonymsOntology Lookup ServiceA carcinoma that arises from glandular epithelial cells of the prostate gland
Associated cell lines:
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prostate cancer
Show synonymsOntology Lookup ServiceA primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.
Associated cell lines:
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Proximal spinal muscular atrophy type 1
Show synonymsOntology Lookup ServiceA rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the [...]
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Proximal spinal muscular atrophy type 2
Show synonymsOntology Lookup ServiceA rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.
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Prune Belly Syndrome
Show synonymsOntology Lookup ServiceA rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes.
Associated cell lines:
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Psoriasis
Show synonymsOntology Lookup ServiceAn autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.
Associated cell lines:
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psoriasis
Show synonymsOntology Lookup ServiceA common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.; An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the [...]
Associated cell lines:
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PTEN hamartoma tumor syndrome
Show synonymsOntology Lookup ServiceA group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.
Associated cell lines:
- BCHi013-A
- BCHi013-A-1
- BCHi013-A-2
- BCHi013-A-3
- BCHi013-A-4
- BCHi014-A
- BCHi014-A-1
- BCHi014-A-2
- BCHi014-A-3
- BCHi014-A-4
- BCHi014-A-5
- BCHi014-A-6
- BCHi014-A-7
- BCHi014-A-8
- BCHi015-A
- BCHi015-A-1
- BCHi015-A-2
- BCHi015-A-3
- BCHi015-A-4
- BCHi015-A-5
- BCHi015-A-6
- BCHi016-A
- BCHi016-A-1
- BCHi016-A-2
- BCHi016-A-3
- BCHi016-A-4
- BCHi017-A
- BCHi017-A-1
- BCHi017-A-2
- BCHi017-A-3
- BCHi017-A-4
- BCHi017-A-5
- BCHi017-A-6
- BCHi018-A
- BCHi018-A-1
- BCHi018-A-2
- BCHi018-A-3
- BCHi018-A-4
- BCHi018-A-5
- BCHi018-A-6
- BCHi019-A
- BCHi019-A-1
- BCHi019-A-2
- BCHi019-A-3
- BCHi019-A-4
- BCHi019-A-5
- BCHi019-A-7
- BCHi020-A-1
- BCHi020-A-2
- BCHi020-A-3
- BCHi020-A-4
- BCHi042-A
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PTEN Hamartoma Tumor Syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma.
Associated cell lines:
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pulmonary atresia-intact ventricular septum syndrome
Show synonymsOntology Lookup ServicePulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent [...]
Associated cell lines:
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Pulmonary Stenosis
Show synonymsOntology Lookup ServiceNarrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.
Associated cell lines:
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Pulmonary Surfactant Metabolism Dysfunction-3
Show synonymsOntology Lookup ServiceAn autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants.
Associated cell lines:
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Pulmonary Valve Atresia with Intact Ventricular Septum
Show synonymsOntology Lookup ServicePulmonary valve atresia not associated with a ventricular septal defect.
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pyridoxine-dependent epilepsy
Show synonymsOntology Lookup ServiceA rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
Associated cell lines:
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Pyruvate Carboxylase Deficiency
Show synonymsOntology Lookup ServiceA rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.
Associated cell lines:
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Rahman syndrome
Show synonymsOntology Lookup ServiceRahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought [...]
Associated cell lines:
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Rare hypertrophic cardiomyopathy
Ontology Lookup ServiceAssociated cell lines:
- UKKi017-A
- UKKi017-B
- UKKi017-C
- UKKi025-A
- UKKi025-B
- UKKi025-C
- UKKi031-A
- UKKi031-B
- UKKi031-C
- UKKi035-A
- UKKi035-B
- UKKi035-C
- WTSIi460-A
- WTSIi460-B
- WTSIi461-A
- WTSIi461-B
- WTSIi462-A
- WTSIi466-A
- WTSIi466-B
- WTSIi483-A
- WTSIi483-B
- WTSIi484-A
- WTSIi484-B
- WTSIi493-A
- WTSIi493-B
- WTSIi499-A
- WTSIi508-A
- WTSIi508-B
- WTSIi514-A
- WTSIi514-B
- WTSIi609-A
- WTSIi609-B
- WTSIi679-A
- WTSIi679-B
- WTSIi685-A
- WTSIi685-B
- WTSIi689-A
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RASopathy
Show synonymsOntology Lookup ServiceA group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines [...]
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recessive dystrophic epidermolysis bullosa
Show synonymsOntology Lookup ServiceAn epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
Associated cell lines:
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Relapsing-Remitting Multiple Sclerosis
Show synonymsOntology Lookup ServiceA type of multiple sclerosis characterized by intermittent flare-ups with a return to few or no symptoms.
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relapsing-remitting multiple sclerosis
Show synonymsOntology Lookup ServiceThe most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. [...]
Associated cell lines:
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Restrictive Cardiomyopathy
Show synonymsOntology Lookup ServiceA type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.
Associated cell lines:
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retinal detachment
Show synonymsOntology Lookup ServiceAn eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.
Associated cell lines:
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Retinal Dystrophy
Show synonymsOntology Lookup ServiceChronic and progressive degeneration of the retina of the eye.
Associated cell lines:
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retinal vein occlusion
Show synonymsOntology Lookup ServiceAn occlusion of the retinal vein.
Associated cell lines:
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retinitis pigmentosa
Show synonymsOntology Lookup ServiceRetinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Associated cell lines:
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Retinitis Pigmentosa
Show synonymsOntology Lookup ServiceA rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.
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Retinitis Pigmentosa
Ontology Lookup ServiceAssociated cell lines:
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Retinitis pigmentosa
Ontology Lookup ServiceRetinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Associated cell lines:
- IDVi001-A
- KLRMMEi001-A
- LEIi004-A
- LEIi004-A-1
- LEIi005-A
- LEIi006-A
- RIi009-A
- RIi012-A
- UNEWi001-A
- UNEWi002-A
- UNEWi003-A
- UNEWi004-A
- UNEWi005-A
- UNEWi027-A
- WTSIi463-A
- WTSIi463-B
- WTSIi610-A
- WTSIi613-A
- WTSIi613-B
- WTSIi659-A
- WTSIi659-B
- WTSIi688-A
- WTSIi688-B
- WTSIi691-A
- WTSIi693-A
- WTSIi693-B
- WTSIi694-A
- WTSIi698-A
- WTSIi698-B
- WTSIi713-A
- WTSIi713-B
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retinitis pigmentosa 11
Show synonymsOntology Lookup ServiceAny retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.
Associated cell lines:
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retinitis pigmentosa 33
Show synonymsOntology Lookup ServiceA retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.
Associated cell lines:
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Retinoblastoma
Show synonymsOntology Lookup ServiceA malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur [...]
Associated cell lines:
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Retinoblastoma
Ontology Lookup ServiceA rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.
Associated cell lines:
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Rett syndrome
Show synonymsOntology Lookup ServiceA severe neurodevelopmental disorder affecting the central nervous system.
Associated cell lines:
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Rett Syndrome
Show synonymsOntology Lookup ServiceA progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.
Associated cell lines:
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Rheumatoid arthritis
Show synonymsOntology Lookup ServiceInflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.
Associated cell lines:
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Rheumatoid Arthritis
Show synonymsOntology Lookup ServiceA chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.
Associated cell lines:
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Ring chromosome 13 syndrome
Show synonymsOntology Lookup ServiceA rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands [...]
Associated cell lines:
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Ring chromosome 18 syndrome
Show synonymsOntology Lookup ServiceA rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
Associated cell lines:
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Rod-cone dystrophy
Show synonymsOntology Lookup ServiceAn inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.; Retinitis pigmentosa is a group of hereditary diseases of the eye. [...]
Associated cell lines:
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Rubinstein Taybi like syndrome
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Rubinstein-Taybi syndrome
Show synonymsOntology Lookup ServiceA rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.
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SAMD9-Associated Hereditary Myelodysplastic Syndrome
Show synonymsOntology Lookup ServiceA familial myelodysplastic syndrome caused by inherited mutations in the SAMD9 gene.
Associated cell lines:
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Sanfilippo Syndrome
Show synonymsOntology Lookup ServiceA rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.
Associated cell lines:
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Sanfilippo syndrome type C
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Schimke immuno-osseous dysplasia
Show synonymsOntology Lookup ServiceA rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.
Associated cell lines:
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Schinzel-Giedion Midface-Retraction Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation.
Associated cell lines:
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Schizophrenia
Show synonymsOntology Lookup ServiceA major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.
Associated cell lines:
- JNMUi001-A
- JNMUi002-A
- JNMUi003-A
- MHRCCGi001-A
- MLUi001-M
- MLUi002-G
- NMIi002-A
- NMIi002-B
- NMIi004-A
- NMIi005-A
- NMIi006-A
- NMIi006-B
- PNUi004-A
- PNUi004-B
- PNUi004-C
- SZGJMSi001-A
- UJSi001-A
- UJSi004-A
- VUi001-A
- VUi002-A
- VUi003-A
- VUi004-A
- VUi005-A
- VUi006-A
- VUi008-A
- VUi009-A
- VUi010-A
- VUi011-A
- VUi012-A
- VUi013-A
- VUi014-A
- VUi015-A
- VUi016-A
- VUi017-A
- VUi018-A
- VUi019-A
- VUi020-A
- VUi021-A
- VUi023-A
- VUi024-A
- VUi034-A
- VUi035-A
- VUi047-A
- VUi049-A
- VUi052-A
- VUi053-A
- VUi089-A
- VUi093-A
- WCHi003-A
- WCHi006-A
- WCHPSYi001-A
- WCHPSYi002-A
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secondary progressive multiple sclerosis
Show synonymsOntology Lookup ServiceA multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.
Associated cell lines:
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self-limited familial neonatal epilepsy
Show synonymsOntology Lookup ServiceA neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental [...]
Associated cell lines:
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Self-limited infantile epilepsy
Show synonymsOntology Lookup ServiceBenign 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.
Associated cell lines:
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Senior-Loken syndrome
Show synonymsOntology Lookup ServiceA syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.; Xref MGI. OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Severe Combined Immunodeficiency
Show synonymsOntology Lookup ServiceX-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004
Associated cell lines:
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Sick sinus syndrome
Show synonymsOntology Lookup ServiceAn abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.
Associated cell lines:
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Sick Sinus Syndrome
Show synonymsOntology Lookup ServiceA constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.
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Sickle cell anemia
Ontology Lookup ServiceA severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.
Associated cell lines:
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Simplified gyral pattern
Show synonymsOntology Lookup ServiceAn abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Associated cell lines:
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Sinus Bradycardia
Show synonymsOntology Lookup ServiceA disorder characterized by an electrocardiographic finding of abnormally slow heart rate with its origin in the sinus node. Thresholds for different age, gender, and patient populations exist. (CDISC)
Associated cell lines:
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Sinus Node Dysfunction
Show synonymsOntology Lookup ServiceA derangement in the normal functioning of the sinoatrial node. Typically, SA node dysfunction is manifest as sinoatrial exit block or sinus arrest, but may present as an absolute or relative bradycardia in the presence of a stressor. It may be associated with bradycardia-tachycardia syndrome
Associated cell lines:
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Skeletal myopathy
Ontology Lookup ServiceAssociated cell lines:
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Small Fiber Neuropathy
Show synonymsOntology Lookup ServiceNeuropathy caused by damage to the small myelinated (A-delta) fibers or unmyelinated C fibers in the peripheral nerves. It manifests with burning pain, shooting pain, allodynia, and hyperesthesia.
Associated cell lines:
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Smith-Magenis Syndrome
Show synonymsOntology Lookup ServiceA genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
Associated cell lines:
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Smith-Magenis syndrome
Show synonymsOntology Lookup ServiceA rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).
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Sorsby fundus dystrophy
Show synonymsOntology Lookup ServiceA rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Associated cell lines:
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Sotos Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental [...]
Associated cell lines:
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Spastic ataxia
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Spastic paraparesis
Ontology Lookup Service -
Spastic paraplegia
Show synonymsOntology Lookup ServiceSpasticity and weakness of the leg and hip muscles.; This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.
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Spastic Paraplegia 31
Show synonymsOntology Lookup ServiceAn autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the REEP1 gene, encoding receptor expression-enhancing protein 1.
Associated cell lines:
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Spastic paraplegia type 7
Show synonymsOntology Lookup ServiceA form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, [...]
Associated cell lines:
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spermatogenic failure, Y-linked, 2
Show synonyms Ontology Lookup ServiceAssociated cell lines:
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Spinal and Bulbar Muscular Atrophy, X-linked 1
Show synonymsOntology Lookup ServiceA rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia.
Associated cell lines:
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spinal muscular atrophy
Show synonymsOntology Lookup ServiceA motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience [...]
Associated cell lines:
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Spinal Muscular Atrophy Type 3
Show synonymsOntology Lookup ServiceA rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.
Associated cell lines:
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spinal muscular atrophy with lower extremity predominant
Show synonymsOntology Lookup ServiceA spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.
Associated cell lines:
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Spinocerebellar ataxia 7
Ontology Lookup Service(SCA7) - Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with [...]
Associated cell lines:
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spinocerebellar ataxia type 1
Ontology Lookup ServiceAn autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
Associated cell lines:
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Spinocerebellar Ataxia Type 1
Show synonymsOntology Lookup ServiceAn autosomal dominant neurodegenerative disorder caused by mutations in the ATXN1 gene, encoding ataxin-1. It is characterized by progressive cerebellar ataxia, dysarthria and saccadic abnormalities.
Associated cell lines:
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Spinocerebellar ataxia type 1
Show synonymsOntology Lookup ServiceSpinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
Associated cell lines:
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Spinocerebellar Ataxia Type 12
Show synonymsOntology Lookup ServiceAn autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.
Associated cell lines:
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spinocerebellar ataxia type 17
Ontology Lookup ServiceAn autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
Associated cell lines:
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Spinocerebellar Ataxia Type 3
Show synonymsOntology Lookup ServiceA very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.
Associated cell lines:
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Spinocerebellar ataxia type 3
Show synonymsOntology Lookup ServiceSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
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Spinocerebellar Ataxia Type 6
Show synonymsOntology Lookup ServiceAn autosomal recessive spinocerebellar ataxia caused by an expanded CAG repeat in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is an almost pure cerebellar syndrome, with onset typically between the ages of 20 to 60.
Associated cell lines:
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Spinocerebellar Ataxia Type 7
Show synonymsOntology Lookup ServiceAn autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.
Associated cell lines:
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Spondylocostal Dysostosis
Show synonymsOntology Lookup ServiceA rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs.
Associated cell lines:
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Spondyloepiphyseal dysplasia congenita
Show synonymsOntology Lookup ServiceSpondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Associated cell lines:
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Spontaneous Coronary Artery Dissection
Show synonymsOntology Lookup ServiceThe spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.
Associated cell lines:
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sporadic amyotrophic lateral sclerosis
Show synonymsOntology Lookup ServiceSporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.
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Stargardt disease
Show synonymsOntology Lookup ServiceStargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.
Associated cell lines:
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Stargardt Disease
Show synonymsOntology Lookup ServiceAn autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision.
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Stargardt disease
Show synonymsOntology Lookup ServiceA rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.
Associated cell lines:
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Steinert myotonic dystrophy
Show synonymsOntology Lookup ServiceA rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.
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STING-associated vasculopathy with onset in infancy
Show synonymsOntology Lookup ServiceSTING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in [...]
Associated cell lines:
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subcortical band heterotopia
Show synonymsOntology Lookup ServiceA congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
Associated cell lines:
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Succinic semialdehyde dehydrogenase deficiency
Show synonymsOntology Lookup ServiceA rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Associated cell lines:
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Systemic Lupus Erythematosus
Show synonymsOntology Lookup ServiceAn autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.
Associated cell lines:
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systemic mastocytosis
Show synonyms Ontology Lookup Service -
Tay-Sachs disease
Show synonymsOntology Lookup ServiceA GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Tay-Sachs disease
Show synonymsOntology Lookup ServiceA rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene.
Associated cell lines:
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Telangiectasia, Hereditary Hemorrhagic
Ontology Lookup ServiceAssociated cell lines:
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Temple-Baraitser syndrome
Show synonymsOntology Lookup ServiceTemple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral [...]
Associated cell lines:
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TH-deficient dopa-responsive dystonia
Show synonymsOntology Lookup ServiceAutosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Associated cell lines:
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Thalassemia
Show synonymsOntology Lookup ServiceAn inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
Associated cell lines:
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Thoracic Aortic Aneurysm
Show synonymsOntology Lookup ServiceAn aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.
Associated cell lines:
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Thrombocytopenia 5
Show synonymsOntology Lookup ServiceAn autosomal dominant disorder characterized by decreased platelets, bleeding tendency, and mutation in the ETV6 gene. It is associated with an increased risk of developing hematologic malignancy.
Associated cell lines:
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Tooth agenesis
Show synonymsOntology Lookup ServiceThe absence of one or more teeth from the normal series by a failure to develop; Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth.
Associated cell lines:
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Tourette Syndrome
Show synonymsOntology Lookup ServiceA neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.
Associated cell lines:
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Transient Abnormal Myelopoiesis Associated with Down Syndrome
Show synonymsOntology Lookup ServiceA myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.
Associated cell lines:
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Transthyretin Amyloid Cardiomyopathy
Show synonymsOntology Lookup ServiceCardiomyopathy resulting from the deposition of misfolded transthyretin. The condition can be classified by the presence (hereditary transthyretin amyloid) or absence (wild-type transthyretin amyloid) of mutation(s) in the TTR gene, encoding transthyretin.
Associated cell lines:
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transthyretin amyloidosis
Show synonymsOntology Lookup ServiceAn amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Transthyretin cardiac amyloidosis
Show synonymsOntology Lookup ServiceA type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.
Associated cell lines:
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Trichothiodystrophy 1, Photosensitive
Show synonymsOntology Lookup ServiceAn autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.
Associated cell lines:
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Triploidy
Show synonymsOntology Lookup ServiceA numerical chromosomal abnormality characterized by the presence of three complete sets of chromosomes.
Associated cell lines:
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Trisomy 21
Show synonymsOntology Lookup ServiceA chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells.
Associated cell lines:
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Tuberous Sclerosis
Show synonymsOntology Lookup ServiceHereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
Associated cell lines:
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Tuberous Sclerosis
Ontology Lookup ServiceAssociated cell lines:
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Tuberous Sclerosis 2
Show synonymsOntology Lookup ServiceTuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
Associated cell lines:
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Tuberous sclerosis complex
Show synonymsOntology Lookup ServiceA rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.
Associated cell lines:
- BCHi026-A
- BCHi026-A-1
- BCHi026-A-2
- BCHi026-A-3
- BCHi026-A-4
- BCHi027-A
- BCHi027-A-1
- BCHi027-A-2
- BCHi027-A-3
- BCHi027-A-4
- BCHi027-A-5
- BCHi027-A-6
- BCHi029-A
- BCHi029-B
- BCHi030-A
- BCHi030-B
- BCHi038-A
- BCHi038-A-1
- BCHi038-A-2
- BCHi038-A-3
- BCHi038-A-4
- BCHi038-A-5
- BCHi038-A-6
- EMCi169-A
- EMCi169-B
- EMCi169-C
- EMCi169-D
- EMCi169-E
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type 1 diabetes mellitus
Show synonymsOntology Lookup ServiceA chronic condition characterized by minimal or absent production of insulin by the pancreas.
Associated cell lines:
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Type 1 Diabetes Mellitus
Show synonymsOntology Lookup ServiceA chronic condition characterized by minimal or absent production of insulin by the pancreas.
Associated cell lines:
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type 2 diabetes mellitus
Show synonymsOntology Lookup ServiceA diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.; Xref MGI. OMIM mapping confirmed by DO. [SN].
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type 2 diabetes mellitus
Show synonymsOntology Lookup ServiceA type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.
Associated cell lines:
- CIRMi121-A
- CIRMi136-A
- CIRMi152-A
- CIRMi165-A
- CIRMi183-A
- CIRMi268-A
- CIRMi280-A
- CIRMi281-A
- CIRMi282-A
- CIRMi289-A
- CIRMi290-A
- CIRMi291-A
- CIRMi297-A
- CIRMi299-A
- CIRMi301-A
- CIRMi303-A
- CIRMi304-A
- CIRMi306-A
- CIRMi309-A
- CIRMi334-A
- CIRMi337-A
- CIRMi357-A
- CIRMi379-A
- CIRMi386-A
- CIRMi387-A
- CIRMi390-A
- CIRMi391-A
- CIRMi400-A
- CIRMi414-A
- CIRMi434-A
- CIRMi437-A
- CIRMi438-A
- CIRMi452-A
- CIRMi454-A
- CIRMi458-A
- CIRMi465-A
- CIRMi466-A
- CIRMi467-A
- CIRMi470-A
- CIRMi471-A
- CIRMi472-A
- CIRMi473-A
- CIRMi475-A
- CIRMi477-A
- CIRMi478-A
- CIRMi485-A
- CIRMi486-A
- CIRMi487-A
- CIRMi490-A
- CIRMi491-A
- CIRMi493-A
- CIRMi494-A
- CIRMi495-A
- CIRMi497-A
- CIRMi500-A
- CIRMi502-A
- CIRMi503-A
- CIRMi510-A
- CIRMi515-A
- CIRMi516-A
- CIRMi518-A
- CIRMi520-A
- CIRMi522-A
- CIRMi523-A
- CIRMi527-A
- CIRMi529-A
- CIRMi532-A
- CIRMi533-A
- CIRMi535-A
- CIRMi536-A
- CIRMi537-A
- CIRMi539-A
- CIRMi540-A
- CIRMi543-A
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Type 2 Diabetes Mellitus
Show synonymsOntology Lookup ServiceA type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.
Associated cell lines:
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Type I diabetes mellitus
Show synonymsOntology Lookup ServiceA chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.; The onset of type 1 diabetes is typically during adolescence, but it can develop at any age.
Associated cell lines:
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Type I truncus arteriosus
Show synonymsOntology Lookup ServiceTruncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.; According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
Associated cell lines:
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Tyrosine Hydroxylase Deficiency
Show synonymsOntology Lookup ServiceAn autosomal recessive condition caused by mutation(s) in the TH gene, encoding tyrosine 3-monooxygenase. It is characterized by onset in infancy of dopa-responsive dystonia.
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Tyrosinemia type 1
Show synonymsOntology Lookup ServiceA rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
Associated cell lines:
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Ullrich Congenital Muscular Dystrophy
Show synonymsOntology Lookup ServiceA rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints.
Associated cell lines:
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Unipolar Depression
Show synonymsOntology Lookup ServiceA mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem [...]
Associated cell lines:
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USH2A
Ontology Lookup ServiceUsher syndrome 2A (autosomal recessive, mild); Other designations: usher syndrome type IIa protein|usher syndrome type-2A protein|usherin
Associated cell lines:
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Usher syndrome
Ontology Lookup ServiceA syndrome characterized by a combination of hearing loss and visual impairment.; Xref MGI. OMIM mapping confirmed by DO. [LS].
Associated cell lines:
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Usher Syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.
Associated cell lines:
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Usher syndrome
Show synonymsOntology Lookup ServiceA rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.
Associated cell lines:
- WTSIi447-A
- WTSIi447-B
- WTSIi450-A
- WTSIi450-B
- WTSIi453-A
- WTSIi454-A
- WTSIi454-B
- WTSIi464-A
- WTSIi464-B
- WTSIi474-A
- WTSIi474-B
- WTSIi486-A
- WTSIi486-B
- WTSIi487-A
- WTSIi488-A
- WTSIi488-B
- WTSIi510-A
- WTSIi510-B
- WTSIi516-A
- WTSIi516-B
- WTSIi522-A
- WTSIi522-B
- WTSIi527-A
- WTSIi527-B
- WTSIi548-A
- WTSIi548-B
- WTSIi576-A
- WTSIi669-A
- WTSIi669-B
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Usher syndrome type 1B
Show synonymsOntology Lookup ServiceUsher syndrome in which the cause of the disease is a mutation in the MYO7A gene
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Usher Syndrome Type 2
Show synonymsOntology Lookup ServiceA syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.
Associated cell lines:
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Van Maldergem syndrome 1
Ontology Lookup ServiceA Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.
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Varicose Veins
Ontology Lookup ServiceAssociated cell lines:
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Vascular Ehlers-Danlos syndrome
Show synonymsOntology Lookup ServiceA rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
Associated cell lines:
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Ventricular Fibrillation
Show synonymsOntology Lookup ServiceA disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)
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VHL
Ontology Lookup Servicevon Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; Other designations: elongin binding protein|protein G7|von Hippel-Lindau disease tumor suppressor
Associated cell lines:
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Vici Syndrome
Show synonymsOntology Lookup ServiceAn autosomal recessive condition caused by mutation(s) in the EPG5 gene, encoding ectopic P granules protein 5 homolog. It is characterized by variable immunodeficiency, cleft lip/palate, cataracts, hypopigmentation, and absent corpus callosum.
Associated cell lines:
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von Hippel-Lindau disease
Show synonymsOntology Lookup ServiceOMIM mapping confirmed by DO. [LS].
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Von Hippel-Lindau Disease Tumor Suppressor
Show synonymsOntology Lookup ServiceVon Hippel-Lindau disease tumor suppressor (213 aa, ~24 kDa) is encoded by the human VHL gene. This protein plays a role in protein ubiquitination and regulation of protein degradation.
Associated cell lines:
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Waardenburg Syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
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Waardenburg syndrome
Ontology Lookup ServiceA rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).
Associated cell lines:
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Waardenburg Syndrome Type 1
Show synonymsOntology Lookup ServiceA rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
Associated cell lines:
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Waardenburg Syndrome Type 2
Show synonymsOntology Lookup ServiceA rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum.
Associated cell lines:
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Waardenburg syndrome type 4C
Show synonymsOntology Lookup ServiceA Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.
Associated cell lines:
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Walker-Warburg syndrome
Show synonymsOntology Lookup ServiceA congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.; OMIM mapping confirmed by DO. [SN].
Associated cell lines:
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Weaver Syndrome
Show synonymsOntology Lookup ServiceA rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.
Associated cell lines:
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Werner Syndrome
Show synonymsOntology Lookup ServiceA rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer.
Associated cell lines:
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West Syndrome
Show synonymsOntology Lookup ServiceA rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and cognitive dysfunction.
Associated cell lines:
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Williams Syndrome
Show synonymsOntology Lookup ServiceA rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.
Associated cell lines:
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Williams syndrome
Show synonymsOntology Lookup ServiceA rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, [...]
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Williams-Beuren syndrome
Show synonymsOntology Lookup ServiceA syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.; OMIM mapping confirmed by DO. [LS].
Associated cell lines:
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Wilson disease
Show synonymsOntology Lookup ServiceA very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Associated cell lines:
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Wilson disease
Show synonymsOntology Lookup ServiceA rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.
Associated cell lines:
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Wolfram Syndrome
Show synonymsOntology Lookup ServiceA rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Associated cell lines:
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Wolfram syndrome 1
Show synonymsOntology Lookup ServiceAny Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.
Associated cell lines:
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X-linked adrenoleukodystrophy
Show synonymsOntology Lookup ServiceA rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.
Associated cell lines:
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X-linked Alport syndrome
Show synonymsOntology Lookup ServiceX-linked form of Alport syndrome.
Associated cell lines:
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X-Linked Centronuclear Myopathy
Show synonymsOntology Lookup ServiceAn X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild [...]
Associated cell lines:
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X-linked creatine transporter deficiency
Show synonymsOntology Lookup ServiceX-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
Associated cell lines:
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X-Linked Dominant Hypophosphatemic Rickets
Show synonymsOntology Lookup ServiceAn X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.
Associated cell lines:
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X-linked intellectual disability, Nascimento type
Show synonymsOntology Lookup ServiceX-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, [...]
Associated cell lines:
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X-linked myopathy with excessive autophagy
Show synonymsOntology Lookup ServiceA myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.
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X-linked retinoschisis
Show synonymsOntology Lookup ServiceA rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.
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X-linked spondyloepimetaphyseal dysplasia
Ontology Lookup ServiceA rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.
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xeroderma pigmentosum group A
Show synonymsOntology Lookup ServiceA xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.
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xeroderma pigmentosum group C
Show synonymsOntology Lookup ServiceAn autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
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Xia-Gibbs Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.
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Xia-Gibbs Syndrome
Show synonymsOntology Lookup ServiceAn autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.
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Young-onset Parkinson disease
Show synonymsOntology Lookup ServiceA rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.
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Zellweger spectrum disorders
Show synonymsOntology Lookup ServiceThe most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.; Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
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zygotic genome activation
Show synonymsOntology Lookup ServiceA process that contributes to the onset of de novo transcription from the zygotic genome as part of the maternal-to-zygote transition in gene expression. The zygote overcomes the silencing that has been established. The cause of this silencing could be due to several factors: chromatin modifications leading to repression, or lack of adequate transcription machinery.
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