Diseases associated to hPSCreg cell lines

  1. adrenoleukodystrophy diffuse sclerosis, encephalitis periaxialis, schilder's, adrenoleukodystrophy, bronze schilder disease, x-linked adrenoleukodystrophy, sudanophilic cerebral sclerosis, ald, encephalitis periaxialis concentrica, siemerling-creutzfeldt disease, schilder disease

    diffuse sclerosis, encephalitis periaxialis, schilder's, adrenoleukodystrophy, bronze schilder disease, x-linked adrenoleukodystrophy, sudanophilic cerebral sclerosis, ald, encephalitis periaxialis concentrica, siemerling-creutzfeldt disease, schilder disease

    Disease Ontology
    Associated cell lines:
  2. age-related macular degeneration macular dystrophy, degeneration, macular, age related maculopathies, macular degeneration nos, age related maculopathy, age related macular degeneration, unspecified senile macular degeneration, maculopathies, age related, maculopathy age relat, aamd - age related macular degeneration, maculopathies, age-related, macular dystrophies, armd, amended, dystrophies, macular, age-related maculopathy, senile macular degeneration, smd - senile macular degeneration, macular degeneration (senile) of retina, unspecified, macular degeneration, age-related, degeneration, age-related macular, macular degeneration (disorder), macular degenerations, degenerations, age-related macular, age relat maculopathies, macular degenerations, age-related, maculopathy, age-related, amd - age-related macular degeneration, maculopathy, age related, dystrophy, macular, degenerations, macular, senile macular retinal degeneration, age-related macular degeneration (disorder), age related macular degeneration (disorder) [ambiguous], age relat

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

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  3. Allan-Herndon-Dudley syndrome monocarboxylate transporter 8 deficiency, x-linked intellectual disability-hypotonia syndrome, mct8 deficiency, ahds

    monocarboxylate transporter 8 deficiency, x-linked intellectual disability-hypotonia syndrome, mct8 deficiency, ahds

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    Associated cell lines:
  4. Alpha-thalassemia α-thalassemia, alpha-thalassemia, alpha thalassemia, alpha thalassaemia

    α-thalassemia, alpha-thalassemia, alpha thalassemia, alpha thalassaemia

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    Associated cell lines:
  5. Alport syndrome alport deafness-nephropathy

    alport deafness-nephropathy

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    Associated cell lines:
  6. Alzheimer disease late-onset form of familial alzheimer disease, alzheimer disease

    late-onset form of familial alzheimer disease, alzheimer disease

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    Associated cell lines:
  7. Alzheimers disease disease, alzheimer, dementia in alzheimer's disease, unspecified (disorder), presenile alzheimer dementia, alzheimers dis, alzheimers, dat - dementia alzheimer's type, dementia in alzheimer's disease, alzheimer's disease, nos, alzheimer dementia, presenile, dementia, alzheimer type, alzheimer dementia, alzheimer's dementia, alzheimer's, dementia, presenile, [x]dementia in alzheimer's disease (disorder), alzheimer dis, ad, [x]dementia in alzheimer's disease, ad - alzheimer's disease, disease, alzheimer's, alzheimer disease, dementia, presenile alzheimer, alzheimer type dementia, dementia in alzheimer's disease (disorder), alzheimer's disease (disorder), alzheimers dementia, dementia of the alzheimer's type, sporadic alzheimer's disease

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

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

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

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  9. anemia

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    Associated cell lines:
  10. anti-social behavior

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    Associated cell lines:
  11. Aplastic anemia

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    Associated cell lines:
  12. Arrhythmogenic right ventricular cardiomyopathy arvc, arvd, arrhythmogenic right ventricular dysplasia

    arvc, arvd, arrhythmogenic right ventricular dysplasia

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    Associated cell lines:
  13. atrial fibrillation atrial fibrillations, fibrillations, auricular, auricular fibrillation, atrial fibrillation (disorder), af - atrial fibrillation, auricular fibrillations, fibrillation, auricular, fibrillation, atrial, fibrillations, atrial

    atrial fibrillations, fibrillations, auricular, auricular fibrillation, atrial fibrillation (disorder), af - atrial fibrillation, auricular fibrillations, fibrillation, auricular, fibrillation, atrial, fibrillations, atrial

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    Associated cell lines:
  14. autosomal dominant cerebellar ataxia spinocerebellar ataxia

    spinocerebellar ataxia

    Disease Ontology
    Associated cell lines:
  15. Autosomal dominant polycystic kidney disease polycystic kidneys - adult type, autosomal dominant adult polycystic kidney disease, adpkd, adult type autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type (disorder), autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type, adpkd - autosomal dominant polycystic kidney disease, polycystic kidney, autosomal dominant

    polycystic kidneys - adult type, autosomal dominant adult polycystic kidney disease, adpkd, adult type autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type (disorder), autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type, adpkd - autosomal dominant polycystic kidney disease, polycystic kidney, autosomal dominant

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  16. Bardet-Biedl syndrome bbs

    bbs

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  17. Batten disease juvenile neuronal ceroid lipofuscinosis

    juvenile neuronal ceroid lipofuscinosis

    Disease Ontology
  18. Becker muscular dystrophy benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

    benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

    Disease Ontology
    Associated cell lines:
  19. beta thalassemia

    Disease Ontology
  20. bipolar disorder psychoses, manic-depressive, bipolar affective disorder, current episode depression (disorder), manic bipolar i disorder, manic-depressive psychosis, mixed bipolar affective disorder, nos (disorder), disorder, bipolar, manic bipolar i disorder (disorder), manias, bipolar disorders, affective bipolar psychosis, psychosis, bipolar affective, psychosis, manic-depressive, manic depressive psychosis, manic dis, bipolar depression, bipolar dis, manic disorders, unspecified bipolar affective disorder, nos (disorder), bipolar affective disorder, manic states, manic depressive disorder, unspecified bipolar affective disorder, state, manic, psychoses, manic depressive, manic depressive illness, mania, bipolar disorder manic phase, unspecified bipolar affective disorder, nos, psychoses, bipolar affective, unspecified bipolar affective disorder, unspecified (disorder), unspecified bipolar affective disorder, unspecified, psychosis, manic depressive, bipolar affective disorder , current episode mixed (disorder), disorder,

    psychoses, manic-depressive, bipolar affective disorder, current episode depression (disorder), manic bipolar i disorder, manic-depressive psychosis, mixed bipolar affective disorder, nos (disorder), disorder, bipolar, manic bipolar i disorder (disorder), manias, bipolar disorders, affective bipolar psychosis, psychosis, bipolar affective, psychosis, manic-depressive, manic depressive psychosis, manic dis, bipolar depression, bipolar dis, manic disorders, unspecified bipolar affective disorder, nos (disorder), bipolar affective disorder, manic states, manic depressive disorder, unspecified bipolar affective disorder, state, manic, psychoses, manic depressive, manic depressive illness, mania, bipolar disorder manic phase, unspecified bipolar affective disorder, nos, psychoses, bipolar affective, unspecified bipolar affective disorder, unspecified (disorder), unspecified bipolar affective disorder, unspecified, psychosis, manic depressive, bipolar affective disorder , current episode mixed (disorder), disorder,

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  21. Brugada syndrome sunds, sudden unexplained nocturnal death syndrome, pokkuri death syndrome, idiopathic ventricular fibrillation, brugada type, bangungut, dream disease

    sunds, sudden unexplained nocturnal death syndrome, pokkuri death syndrome, idiopathic ventricular fibrillation, brugada type, bangungut, dream disease

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  22. CADASIL hereditary multi-infarct dementia, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

    hereditary multi-infarct dementia, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

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    Associated cell lines:
  23. Catecholaminergic polymorphic ventricular tachycardia double tachycardia induced by catecholamines, cpvt, bidirectional tachycardia induced by catecholamine, malignant paroxysmal ventricular tachycardia, multifocal ventricular premature beats

    double tachycardia induced by catecholamines, cpvt, bidirectional tachycardia induced by catecholamine, malignant paroxysmal ventricular tachycardia, multifocal ventricular premature beats

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

    hereditary motor and sensory neuropathy type 1

    Disease Ontology
    Associated cell lines:
  25. CHARGE syndrome charge association, hall-hittner syndrome, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

    charge association, hall-hittner syndrome, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

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    Associated cell lines:
  26. cholestasis bile occlusion, obstruction of bile duct

    bile occlusion, obstruction of bile duct

    Disease Ontology
    Associated cell lines:
  27. chromosomal disease

    Disease Ontology
  28. chromosome 16p11.2 deletion syndrome, 220kb distal 16p11.2 microdeletion syndrome

    distal 16p11.2 microdeletion syndrome

    Disease Ontology
  29. Congenital Hyperinsulinism

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

    lmna-related congenital muscular dystrophy, l-cmd

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    Associated cell lines:
  31. Corticobasal degeneration

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  32. creatine transporter deficiency cerebral creatine deficiency syndrome 1, slc6a8 deficiency

    cerebral creatine deficiency syndrome 1, slc6a8 deficiency

    Disease Ontology
    Associated cell lines:
  33. Crigler-Najjar syndrome crigler-najjar syndrome, type i (disorder), bilirubin udp glucuronyl transferase deficiency, crigler najjar syndrome

    crigler-najjar syndrome, type i (disorder), bilirubin udp glucuronyl transferase deficiency, crigler najjar syndrome

    Disease Ontology
    Associated cell lines:
  34. Cystic fibrosis mucoviscidosis, cf

    mucoviscidosis, cf

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  35. Desminopathy desmin-related myofibrillar myopathy

    desmin-related myofibrillar myopathy

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    Associated cell lines:
  36. diabetes mellitus diabetes mellitus (disorder), diabetes, diabetes mellitus, nos, dm - diabetes mellitus, diabetes nos

    diabetes mellitus (disorder), diabetes, diabetes mellitus, nos, dm - diabetes mellitus, diabetes nos

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  37. DMD

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  38. DMD

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  39. Down syndrome down's syndrome, trisomy 21 nos, trisomy 21, mitotic nondisjunction, trisomy 21, meiotic nondisjunction, down's syndrome nos (disorder), complete trisomy 21 syndrome (disorder), g trisomy, down's syndrome nos, partial trisomy 21 down syndrome, down syndrome, partial trisomy 21, syndrome, down's, trisomy 21, t21 - trisomy 21, syndrome, down, complete trisomy 21 syndrome, trisomy 21 syndrome, mongolism, downs syndrome, trisomy 21 (down syndrome)downs syndrometrisomy 21 syndrome, down's syndrome - trisomy 21

    down's syndrome, trisomy 21 nos, trisomy 21, mitotic nondisjunction, trisomy 21, meiotic nondisjunction, down's syndrome nos (disorder), complete trisomy 21 syndrome (disorder), g trisomy, down's syndrome nos, partial trisomy 21 down syndrome, down syndrome, partial trisomy 21, syndrome, down's, trisomy 21, t21 - trisomy 21, syndrome, down, complete trisomy 21 syndrome, trisomy 21 syndrome, mongolism, downs syndrome, trisomy 21 (down syndrome)downs syndrometrisomy 21 syndrome, down's syndrome - trisomy 21

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  40. Dravet syndrome smei, severe myoclonus epilepsy of infancy, severe myoclonic epilepsy of infancy, ds

    smei, severe myoclonus epilepsy of infancy, severe myoclonic epilepsy of infancy, ds

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  41. drug-induced liver injury liver injury, drug-induced, drug-induced liver disease, toxic hepatitis, hepatitis, toxic, hepatitis, drug-induced

    liver injury, drug-induced, drug-induced liver disease, toxic hepatitis, hepatitis, toxic, hepatitis, drug-induced

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  42. Duchenne muscular dystrophy muscular dystrophy, duchenne

    muscular dystrophy, duchenne

    Disease Ontology
  43. Emery-Dreifuss muscular dystrophy edmd

    edmd

    Disease Ontology
    Associated cell lines:
  44. endocrine gland cancer malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland (disorder), malignant endocrine tumor, endocrine neoplasm, endocrine tumor, neoplasm of endocrine system (disorder)

    malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland (disorder), malignant endocrine tumor, endocrine neoplasm, endocrine tumor, neoplasm of endocrine system (disorder)

    Disease Ontology
    Associated cell lines:
  45. epidermolysis bullosa acantholysis bullosa

    acantholysis bullosa

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    Associated cell lines:
  46. Erythromelalgia

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  47. Fabry disease fabry's disease (disorder), alpha galactosidase deficiency, deficiency of melibiase, angiokeratoma corporis diffusum, alpha-galactosidase a deficiency, fabry's disease

    fabry's disease (disorder), alpha galactosidase deficiency, deficiency of melibiase, angiokeratoma corporis diffusum, alpha-galactosidase a deficiency, fabry's disease

    Disease Ontology
    Associated cell lines:
  48. Facioscapulohumeral dystrophy facioscapulohumeral muscular dystrophy, landouzy-dejerine myopathy, facioscapulohumeral myopathy, fsh dystrophy, fshd

    facioscapulohumeral muscular dystrophy, landouzy-dejerine myopathy, facioscapulohumeral myopathy, fsh dystrophy, fshd

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

    landouzy dejerine muscular dystrophy, landouzy-dejerine muscular dystrophy, muscular dystrophy, landouzy-dejerine

    Disease Ontology
    Associated cell lines:
  50. factor VIII deficiency hemophilia a (disorder), congenital factor viii disorder, subhemophilia

    hemophilia a (disorder), congenital factor viii disorder, subhemophilia

    Disease Ontology
    Associated cell lines:
  51. familial adenomatous polyposis adenomatous polyposis of the colon

    adenomatous polyposis of the colon

    Disease Ontology
  52. familial hypercholesterolemia fredrickson type iia hyperlipoproteinemia, type ii hyperlipidemia, hyperbetalipoproteinemia, familial hypercholesteremia, familial hyperbetalipoproteinaemia, fredrickson type iia lipidaemia

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

    Disease Ontology
    Associated cell lines:
  53. Familial long QT syndrome congenital long qt syndrome

    congenital long qt syndrome

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  54. Fanconi anemia fanconi pancytopenia

    fanconi pancytopenia

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    Associated cell lines:
  55. fibrodysplasia ossificans progressiva myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, stone man syndrome

    myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, stone man syndrome

    Disease Ontology
    Associated cell lines:
  56. focal segmental glomerulosclerosis glomerulosclerosis, focal, glomerulosclerosis, glomerulosclerosis, focal segmental, glomerulonephritis, focal sclerosing

    glomerulosclerosis, focal, glomerulosclerosis, glomerulosclerosis, focal segmental, glomerulonephritis, focal sclerosing

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

    fxs, frax syndrome, martin-bell syndrome, fraxa syndrome

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  58. Frontotemporal dementia ftd

    ftd

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

    glucocerebrosidase deficiency, acid beta-glucosidase deficiency

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    Associated cell lines:
  60. Genetic macular dystrophy

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    Associated cell lines:
  61. glycogen storage disease glycogenosis

    glycogenosis

    Disease Ontology
    Associated cell lines:
  62. hematological system disease hematologic diseases, blood disorder, hematopoietic system disease, hematologic disease

    hematologic diseases, blood disorder, hematopoietic system disease, hematologic disease

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    Associated cell lines:
  63. Hereditary Cerebellar Ataxia hereditary cerebellar ataxia

    hereditary cerebellar ataxia

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    Associated cell lines:
  64. hereditary multiple exostoses multiple exostosis syndromes, multiple congenital exostosis, multiple ostechondromas, hereditary multiple exostoses 3, hereditary multiple exostoses 2, hereditary multiple exostoses 1, osteochondromatosis syndrome (disorder) [ambiguous]

    multiple exostosis syndromes, multiple congenital exostosis, multiple ostechondromas, hereditary multiple exostoses 3, hereditary multiple exostoses 2, hereditary multiple exostoses 1, osteochondromatosis syndrome (disorder) [ambiguous]

    Disease Ontology
    Associated cell lines:
  65. Huntington disease huntington chorea

    huntington chorea

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

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

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  67. Hypertrophic cardiomyopathy obstructive hypertrophic cardiomyopathy, hypertrophic subaortic stenosis

    obstructive hypertrophic cardiomyopathy, hypertrophic subaortic stenosis

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

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

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  69. Jervell and Lange-Nielsen syndrome long qt interval-deafness syndrome

    long qt interval-deafness syndrome

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    Associated cell lines:
  70. Joubert syndrome joubert-boltshauser syndrome, pure joubert syndrome, joubert syndrome type a, classic joubert syndrome, cerebelloparenchymal disorder iv, cpd iv

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

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    Associated cell lines:
  71. Juvenile Huntington disease jhd, juvenile huntington chorea

    jhd, juvenile huntington chorea

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    Associated cell lines:
  72. Kabuki syndrome niikawa-kuroki syndrome, kabuki make-up syndrome

    niikawa-kuroki syndrome, kabuki make-up syndrome

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    Associated cell lines:
  73. Klinefelter's syndrome klinefelter syndrome, xxy syndrome, xxy trisomy, hypogonadotropic hypogonadism

    klinefelter syndrome, xxy syndrome, xxy trisomy, hypogonadotropic hypogonadism

    Disease Ontology
  74. Leber congenital amaurosis leber's disease, leber congenital amaurosis type 13, leber congenital amaurosis type 14, leber's congenital amaurosis, lca, leber's amaurosis

    leber's disease, leber congenital amaurosis type 13, leber congenital amaurosis type 14, leber's congenital amaurosis, lca, leber's amaurosis

    Disease Ontology
    Associated cell lines:
  75. limb-girdle muscular dystrophy erb's muscular dystrophy, limb girdle muscular dystrophy, leyden-mbius muscular dystrophy

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

    Disease Ontology
    Associated cell lines:
  76. Loeys-Dietz syndrome aortic aneurysm syndrome due to tgf-beta receptors anomalies

    aortic aneurysm syndrome due to tgf-beta receptors anomalies

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    Associated cell lines:
  77. long QT syndrome romano-ward syndrome (disorder), romano-ward syndrome, lqt, long q-t syndrome

    romano-ward syndrome (disorder), romano-ward syndrome, lqt, long q-t syndrome

    Disease Ontology
    Associated cell lines:
  78. Marfan syndrome mfs

    mfs

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  79. migraine disorder migraine, acute confusional, migraine, hemicrania, sick headache, migraine, abdominal, migraines, migraines, acute confusional, hemicrania migraine, migraine variant, acute confusional migraines, migraine syndrome, cervical, abdominal migraine, headaches, sick, disorders, migraine, disorder, migraine, variants, migraine, migraine headache, acute confusional migraine, migraines, abdominal, headache, sick, cervical migraine syndrome, migraine, sick headaches, migraine headaches, hemicrania migraines, migraine variants, variant, migraine, status migrainosus, migraine disorders, cervical migraine syndromes, headache, migraine, headaches, migraine, migraines, hemicrania, abdominal migraines, migraine syndromes, cervical

    migraine, acute confusional, migraine, hemicrania, sick headache, migraine, abdominal, migraines, migraines, acute confusional, hemicrania migraine, migraine variant, acute confusional migraines, migraine syndrome, cervical, abdominal migraine, headaches, sick, disorders, migraine, disorder, migraine, variants, migraine, migraine headache, acute confusional migraine, migraines, abdominal, headache, sick, cervical migraine syndrome, migraine, sick headaches, migraine headaches, hemicrania migraines, migraine variants, variant, migraine, status migrainosus, migraine disorders, cervical migraine syndromes, headache, migraine, headaches, migraine, migraines, hemicrania, abdominal migraines, migraine syndromes, cervical

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  80. MODY maturity-onset diabetes of the young

    maturity-onset diabetes of the young

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  81. monogenic diabetes monogenic diabetes mellitus

    monogenic diabetes mellitus

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  82. monogenic disease

    Disease Ontology
  83. motor neuron disease motor neuron disease, secondary, motor neuron disease, familial, scleroses, lateral, motor neuron dis lower, lateral sclerosis, anterior horn cell dis, sclerosis, lateral, motor system dis, anterior horn cell disease, familial motor neuron disease, motor neuron dis familial, neuron diseases, motor, lateral scleroses, lower motor neuron dis, second motor neuron dis, motor neuron disease, lower, motor system diseases, motor neuron diseases, motor neuron dis upper, familial motor neuron dis, motor system disease, motor neuron dis, upper motor neuron disease, scleroses, primary lateral, lower motor neuron disease, motor neuron dis second, neuron disease, motor, motor neuron disease, upper, upper motor neuron dis, secondary motor neuron disease

    motor neuron disease, secondary, motor neuron disease, familial, scleroses, lateral, motor neuron dis lower, lateral sclerosis, anterior horn cell dis, sclerosis, lateral, motor system dis, anterior horn cell disease, familial motor neuron disease, motor neuron dis familial, neuron diseases, motor, lateral scleroses, lower motor neuron dis, second motor neuron dis, motor neuron disease, lower, motor system diseases, motor neuron diseases, motor neuron dis upper, familial motor neuron dis, motor system disease, motor neuron dis, upper motor neuron disease, scleroses, primary lateral, lower motor neuron disease, motor neuron dis second, neuron disease, motor, motor neuron disease, upper, upper motor neuron dis, secondary motor neuron disease

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    Associated cell lines:
  84. MYH9-related disease myh9-rd, myh9-related syndrome, myh9-related disorder, myh9-related syndromic thrombocytopenia

    myh9-rd, myh9-related syndrome, myh9-related disorder, myh9-related syndromic thrombocytopenia

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    Associated cell lines:
  85. myocardial infarction infarction of heart, nos, attack - heart, heart attack, cardiac infarction, mi - myocardial infarction, infarction (mi), myocardial, myocardial infarcts, infarction, myocardial, myocardial infarctions, infarction of heart, myocardial infarction nos, heart attack, nos, myocardial infarction, (mi), myocardial infarct, cardiac infarction, nos, infarctions, myocardial, myocardial infarction, nos, mi, myocardial infarction, mi, infarcts, myocardial, myocardial infarction (disorder), infarct, myocardial

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

    Ontology Lookup Service
    Associated cell lines:
  86. myotonic disease

    Disease Ontology
    Associated cell lines:
  87. myotonic dystrophy type 1 dystrophia myotonica, congenital myotonic dystrophy, steinert disease, myotonic dystrophy of steinert

    dystrophia myotonica, congenital myotonic dystrophy, steinert disease, myotonic dystrophy of steinert

    Disease Ontology
  88. neurofibromatosis type iv neurofibromatosis of riccardi, neurofibromatosis type 4, neurofibromatosis type 1, neurofibromatosis 1, neurofibromatosis type 2, von reklinghausen disease, recklinghausen's neurofibromatosis, peripheral neurofibromatosis, central neurofibromatosis, neurofibromatosis type iv , acoustic neurofibromatosis

    type iv neurofibromatosis of riccardi, neurofibromatosis type 4, neurofibromatosis type 1, neurofibromatosis 1, neurofibromatosis type 2, von reklinghausen disease, recklinghausen's neurofibromatosis, peripheral neurofibromatosis, central neurofibromatosis, neurofibromatosis type iv , acoustic neurofibromatosis

    Disease Ontology
  89. neuropathy

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  90. normal normalities, health, normalcy, normality

    normalities, health, normalcy, normality

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    Associated cell lines:
  91. obsessive-compulsive disorder ocd

    ocd

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    Associated cell lines:
  92. osteogenesis imperfecta lobstein's syndrome, osteopsathyrosis, brittle bone disease, vrolik's disease

    lobstein's syndrome, osteopsathyrosis, brittle bone disease, vrolik's disease

    Disease Ontology
    Associated cell lines:
  93. Pain agnosia

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    Associated cell lines:
  94. Parkinson's disease parkinson's syndrome, parkinsons, primary parkinsonism, parkinsons disease, parkinson disease, parkinson's disease (disorder), parkinson's disease nos, parkinson disease, idiopathic, parkinson dis, paralysis agitans, idiopathic parkinsons dis, parkinson dis idiopathic, parkinsonism, primary, parkinson's disease, lewy body, idiopathic parkinson dis, idiopathic pd, idiopathic parkinson disease, lewy body parkinson's disease, parkinsonian disorder, lewy body parkinson dis, parkinson's, idiopathic parkinson's disease, parkinson's disease nos (disorder), lewy body parkinson disease, parkinsons dis idiopathic, parkinsons dis, parkinson's disease, idiopathic, parkinson syndrome, parkinsons dis lewy body

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

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  95. Patau syndrome trisomy 13, d1 trisomy

    trisomy 13, d1 trisomy

    Disease Ontology
  96. Progressive supranuclear palsy psp syndrome

    psp syndrome

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  97. Prolonged QT interval long qt syndrome, prolong qt interval on ekg

    long qt syndrome, prolong qt interval on ekg

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  98. Proximal spinal muscular atrophy type 3 sma-iii, sma type iii, juvenile spinal muscular atrophy, sma3, kugelberg-welander disease, sma type 3

    sma-iii, sma type iii, juvenile spinal muscular atrophy, sma3, kugelberg-welander disease, sma type 3

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  99. Rare hereditary ataxia

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  100. Retinitis pigmentosa

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  101. Retinoblastoma

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    Associated cell lines:
  102. Rubinstein-Taybi syndrome broad thumb-hallux syndrome, broad thumbs-halluces syndrome

    broad thumb-hallux syndrome, broad thumbs-halluces syndrome

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

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

    Ontology Lookup Service
    Associated cell lines:
  104. Smith-Magenis syndrome 17p11.2 microdeletion syndrome

    17p11.2 microdeletion syndrome

    Ontology Lookup Service
    Associated cell lines:
  105. Spastic paraplegia spastic paraplegia, lower limb

    spastic paraplegia, lower limb

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    Associated cell lines:
  106. Spinocerebellar ataxia type 3 nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, machado-joseph disease, sca3, mjd, machado disease, azorean disease of the nervous system, autosomal dominant striatonigral degeneration

    nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, machado-joseph disease, sca3, mjd, machado disease, azorean disease of the nervous system, autosomal dominant striatonigral degeneration

    Ontology Lookup Service
  107. Steinert myotonic dystrophy myotonic dystrophy type 1, dm1, steinert disease, md1

    myotonic dystrophy type 1, dm1, steinert disease, md1

    Ontology Lookup Service
    Associated cell lines:
  108. systemic mastocytosis smcd - systemic mast cell disease, systemic tissue mast cell disease

    smcd - systemic mast cell disease, systemic tissue mast cell disease

    Disease Ontology
  109. Tay-Sachs disease disease, tay-sachs, hexosaminidase a deficiency, tay-sachs disease (disorder)

    disease, tay-sachs, hexosaminidase a deficiency, tay-sachs disease (disorder)

    Disease Ontology
    Associated cell lines:
  110. tyrosinemia

    Disease Ontology
    Associated cell lines:
  111. unipolar depression neuroses, depressive, emotional depression, depressive disorders, major, major depressive dis, neurosis, depressive, involutional psychosis, disorder, major depressive, depression, endogenous, depressions, endogenous, involutional depression, syndromes, depressive, involutional psychoses, depression, involutional, depressions, unipolar, symptom, depressive, depressive disorder, major, psychosis, involutional, depressions, depressions, emotional, depression, emotional, depressive symptom, disorders, major depressive, depressive symptoms, disorders, depressive, depression, unipolar, depressive dis, depressive disorders, endogenous depressions, depressive neurosis, syndrome, depressive, disorder, depressive, symptoms, depressive, psychoses, involutional, depressive neuroses, depression, neurotic, depressive dis major, paraphrenia, involutional, neurotic depressions, depressions, neurotic, depressive syndromes, depressive syndrome, depression, depressive disorder, endogenous depression, emotional depressions, uni

    neuroses, depressive, emotional depression, depressive disorders, major, major depressive dis, neurosis, depressive, involutional psychosis, disorder, major depressive, depression, endogenous, depressions, endogenous, involutional depression, syndromes, depressive, involutional psychoses, depression, involutional, depressions, unipolar, symptom, depressive, depressive disorder, major, psychosis, involutional, depressions, depressions, emotional, depression, emotional, depressive symptom, disorders, major depressive, depressive symptoms, disorders, depressive, depression, unipolar, depressive dis, depressive disorders, endogenous depressions, depressive neurosis, syndrome, depressive, disorder, depressive, symptoms, depressive, psychoses, involutional, depressive neuroses, depression, neurotic, depressive dis major, paraphrenia, involutional, neurotic depressions, depressions, neurotic, depressive syndromes, depressive syndrome, depression, depressive disorder, endogenous depression, emotional depressions, uni

    Ontology Lookup Service
  112. Usher syndrome

    Disease Ontology
    Associated cell lines:
  113. Usher syndrome retinitis pigmentosa-deafness syndrome, ush

    retinitis pigmentosa-deafness syndrome, ush

    Ontology Lookup Service
  114. von Hippel-Lindau disease von hippel-lindau syndrome, von hippel-lindau syndrome (vhl), von hippel-lindau syndrome (disorder), hippel lindau syndrome

    von hippel-lindau syndrome, von hippel-lindau syndrome (vhl), von hippel-lindau syndrome (disorder), hippel lindau syndrome

    Disease Ontology
  115. X-linked creatine transporter deficiency creatine transporter deficiency, slc6a8 deficiency

    creatine transporter deficiency, slc6a8 deficiency

    Ontology Lookup Service
    Associated cell lines:
  116. X-linked myopathy with excessive autophagy xmea

    xmea

    Disease Ontology
    Associated cell lines: