Diseases associated to hPSCreg cell lines

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

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

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    Associated cell lines:
  2. adrenoleukodystrophy adrenoleukodystrophy, ald, bronze schilder disease, diffuse sclerosis, encephalitis periaxialis concentrica, encephalitis periaxialis, schilder's, schilder disease, siemerling-creutzfeldt disease, sudanophilic cerebral sclerosis, x-linked adrenoleukodystrophy

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

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

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

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

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

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

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

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

    alport deafness-nephropathy

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

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

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

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

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

    als, amyotrophic lateral sclerosis, lou gehrig disease

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    Associated cell lines:
  10. amyotrophic lateral sclerosis type 8 als8, amyotrophic lateral sclerosis 8

    als8, amyotrophic lateral sclerosis 8

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  11. anemia

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    Associated cell lines:
  12. ankylosing spondylitis ankylosing spondylarthritides, ankylosing spondylarthritis, ankylosing spondyloarthritides, ankylosing spondyloarthritis, bechterew dis, bechterew disease, bechterew's disease, bechterews dis, bechterews disease, marie struempell dis, marie struempell disease, marie-struempell disease, rheumatoid spondylitis, spondylarthritides, ankylosing, spondylarthritis ankylopoietica, spondylarthritis, ankylosing, spondylitis, ankylosing, spondylitis, rheumatoid, spondyloarthritides, ankylosing, spondyloarthritis, ankylosing

    ankylosing spondylarthritides, ankylosing spondylarthritis, ankylosing spondyloarthritides, ankylosing spondyloarthritis, bechterew dis, bechterew disease, bechterew's disease, bechterews dis, bechterews disease, marie struempell dis, marie struempell disease, marie-struempell disease, rheumatoid spondylitis, spondylarthritides, ankylosing, spondylarthritis ankylopoietica, spondylarthritis, ankylosing, spondylitis, ankylosing, spondylitis, rheumatoid, spondyloarthritides, ankylosing, spondyloarthritis, ankylosing

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    Associated cell lines:
  13. anti-social behavior

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    Associated cell lines:
  14. Aplastic anemia

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

    arrhythmogenic right ventricular dysplasia, arvc, arvd

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    Associated cell lines:
  16. Ataxia ataxia

    ataxia

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    Associated cell lines:
  17. atopic eczema atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic neurodermatitides, atopic neurodermatitis, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, atopic, eczema, infantile, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions, thyroid adenoma

    atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic neurodermatitides, atopic neurodermatitis, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, atopic, eczema, infantile, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions, thyroid adenoma

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

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

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    Associated cell lines:
  19. attention deficit hyperactivity disorder addh, adhd, attention deficit dis, attention deficit dis with hyperactivity, attention deficit disorder, attention deficit disorder with hyperactivity, attention deficit disorders, attention deficit disorders with hyperactivity, attention deficit hyperactivity dis, attention deficit hyperactivity disorders, brain dysfunction, minimal, deficit disorder, attention, deficit disorders, attention, disorder, attention deficit, disorders, attention deficit, dysfunction, minimal brain, hyperkinetic syndrome, minimal brain dysfunction, syndromes, hyperkinetic

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

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    Associated cell lines:
  20. Autism autism

    autism

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    Associated cell lines:
  21. Autism autism, autistic disorder

    autism, autistic disorder

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

    spinocerebellar ataxia

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

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

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

    infantile malignant osteopetrosis 2, optb4

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    Associated cell lines:
  25. Bardet-Biedl syndrome bbs

    bbs

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  26. Batten disease juvenile neuronal ceroid lipofuscinosis

    juvenile neuronal ceroid lipofuscinosis

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

    benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

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    Associated cell lines:
  28. Best vitelliform macular dystrophy best disease, best macular dystrophy, bmd, bvmd, early-onset vitelliform macular dystrophy, juvenile-onset vitelliform macular dystrophy, polymorphic vitelline macular degeneration, vitelliform macular dystrophy type 2

    best disease, best macular dystrophy, bmd, bvmd, early-onset vitelliform macular dystrophy, juvenile-onset vitelliform macular dystrophy, polymorphic vitelline macular degeneration, vitelliform macular dystrophy type 2

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    Associated cell lines:
  29. beta thalassemia

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

    bspdc, cerebrovascular ferrocalcinosis, idiopathic basal ganglia calcification, pfbc, primary familial brain calcification

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

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

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

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

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

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

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

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

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

    hereditary motor and sensory neuropathy type 1

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

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

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

    bile occlusion, obstruction of bile duct

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    Associated cell lines:
  38. chromosomal disease

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

    distal 16p11.2 microdeletion syndrome

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  40. Coffin-Siris Syndrome coffin-siris syndrome

    coffin-siris syndrome

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    Associated cell lines:
  41. Congenital Hyperinsulinism

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

    l-cmd, lmna-related congenital muscular dystrophy

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    Associated cell lines:
  43. corticobasal degeneration

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

    cerebral creatine deficiency syndrome 1, slc6a8 deficiency

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

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

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    Associated cell lines:
  46. Cystic fibrosis cf, mucoviscidosis

    cf, mucoviscidosis

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  47. Danon disease antopol disease, pseudoglycogenosis ii

    antopol disease, pseudoglycogenosis ii

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    Associated cell lines:
  48. Dentatorubral pallidoluysian atrophy dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

    dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

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    Associated cell lines:
  49. Desminopathy desmin-related myofibrillar myopathy

    desmin-related myofibrillar myopathy

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

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

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  51. DMD

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  52. DMD

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

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

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

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

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

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

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

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

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

    dmd, severe dystrophinopathy, duchenne type

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    Associated cell lines:
  58. Duchenne muscular dystrophy muscular dystrophy, duchenne

    muscular dystrophy, duchenne

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  59. Emery-Dreifuss muscular dystrophy edmd

    edmd

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

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

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    Associated cell lines:
  61. epidermolysis bullosa acantholysis bullosa

    acantholysis bullosa

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    Associated cell lines:
  62. epidermolysis bullosa simplex epidermolysis bullosa simplex

    epidermolysis bullosa simplex

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    Associated cell lines:
  63. Erythromelalgia

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

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

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

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

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  66. 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

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

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

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    Associated cell lines:
  68. familial adenomatous polyposis adenomatous polyposis of the colon

    adenomatous polyposis of the colon

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

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

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    Associated cell lines:
  70. Familial long QT syndrome congenital long qt syndrome

    congenital long qt syndrome

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  71. Fanconi anemia fanconi pancytopenia

    fanconi pancytopenia

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    Associated cell lines:
  72. 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

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    Associated cell lines:
  73. focal segmental glomerulosclerosis glomerulonephritis, focal sclerosing, glomerulosclerosis, glomerulosclerosis, focal, glomerulosclerosis, focal segmental

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

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

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

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  75. Frontotemporal dementia ftd

    ftd

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

    acid beta-glucosidase deficiency, glucocerebrosidase deficiency

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    Associated cell lines:
  77. Genetic macular dystrophy

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  78. glycogen storage disease glycogenosis

    glycogenosis

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    Associated cell lines:
  79. hematological system disease blood disorder, hematologic disease, hematologic diseases, hematopoietic system disease

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

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

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

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    Associated cell lines:
  81. Hereditary spastic paraplegia familial spastic paraplegia, hereditary spastic paraparesis, hsp, spg, strümpell-lorrain disease

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

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    Associated cell lines:
  82. Huntington disease huntington chorea

    huntington chorea

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  83. Hurler-Scheie syndrome mps1h/s, mpsih/s, mucopolysaccharidosis type 1h/s, mucopolysaccharidosis type ih/s

    mps1h/s, mpsih/s, mucopolysaccharidosis type 1h/s, mucopolysaccharidosis type ih/s

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  84. Hypertrophic cardiomyopathy hypertrophic subaortic stenosis, obstructive hypertrophic cardiomyopathy

    hypertrophic subaortic stenosis, obstructive hypertrophic cardiomyopathy

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

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

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

    long qt interval-deafness syndrome

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

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

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

    jhd, juvenile huntington chorea

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    Associated cell lines:
  89. Juvenile Myelomonocytic Leukemia chronic myelomonocytic leukemia, jcml, jmml, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukemia, juvenile myelomonocytic leukemia

    chronic myelomonocytic leukemia, jcml, jmml, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukemia, juvenile myelomonocytic leukemia

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

    kabuki make-up syndrome, niikawa-kuroki syndrome

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

    hypogonadotropic hypogonadism, klinefelter syndrome, xxy syndrome, xxy trisomy

    Ontology Lookup Service
  92. Leber congenital amaurosis lca, leber congenital amaurosis type 13, leber congenital amaurosis type 14, leber's amaurosis, leber's congenital amaurosis, leber's disease

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

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

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

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

    aortic aneurysm syndrome due to tgf-beta receptors anomalies

    Ontology Lookup Service
    Associated cell lines:
  95. long QT syndrome long q-t syndrome, lqt, romano-ward syndrome, romano-ward syndrome (disorder)

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

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    Associated cell lines:
  96. long QT syndrome 1 lqt1, ventricular fibrillation with prolonged qt interval

    lqt1, ventricular fibrillation with prolonged qt interval

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  97. Marfan syndrome mfs

    mfs

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

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

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  99. MODY maturity-onset diabetes of the young

    maturity-onset diabetes of the young

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  100. monogenic diabetes monogenic diabetes mellitus

    monogenic diabetes mellitus

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  101. monogenic disease

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  102. Monosomy 22q13 22q13 deletion, phelan-mcdermid syndrome

    22q13 deletion, phelan-mcdermid syndrome

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    Associated cell lines:
  103. motor neuron disease anterior horn cell dis, anterior horn cell disease, familial motor neuron dis, familial motor neuron disease, lateral scleroses, lateral sclerosis, lower motor neuron dis, lower motor neuron disease, motor neuron dis, motor neuron dis familial, motor neuron dis lower, motor neuron dis second, motor neuron dis upper, motor neuron disease, familial, motor neuron disease, lower, motor neuron disease, secondary, motor neuron disease, upper, motor neuron diseases, motor system dis, motor system disease, motor system diseases, neuron disease, motor, neuron diseases, motor, scleroses, lateral, scleroses, primary lateral, sclerosis, lateral, second motor neuron dis, secondary motor neuron disease, upper motor neuron dis, upper motor neuron disease

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

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    Associated cell lines:
  104. multiple sclerosis disseminated sclerosis, ms, ms (multiple sclerosis), multiple sclerosis acute fulminating, multiple sclerosis, acute fulminating, sclerosis, disseminated, sclerosis, multiple

    disseminated sclerosis, ms, ms (multiple sclerosis), multiple sclerosis acute fulminating, multiple sclerosis, acute fulminating, sclerosis, disseminated, sclerosis, multiple

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    Associated cell lines:
  105. Multiple Sclerosis multiple sclerosis

    multiple sclerosis

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

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

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

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

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    Associated cell lines:
  108. myotonic disease

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

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

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  110. neuroblastoma neuroblastoma (schwannian stroma-poor)

    neuroblastoma (schwannian stroma-poor)

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    Associated cell lines:
  111. neurofibromatosis acoustic neurofibromatosis, central neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 2, neurofibromatosis type 4, neurofibromatosis type iv , peripheral neurofibromatosis, recklinghausen's neurofibromatosis, type iv neurofibromatosis of riccardi, von reklinghausen disease

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

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  112. neuropathy

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  113. Niemann-Pick disease type C

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    Associated cell lines:
  114. normal health, normalcy, normalities, normality

    health, normalcy, normalities, normality

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    Associated cell lines:
  115. obsessive-compulsive disorder ocd

    ocd

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

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

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    Associated cell lines:
  117. Osteogenesis Imperfecta osteogenesis imperfecta

    osteogenesis imperfecta

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    Associated cell lines:
  118. osteogenesis imperfecta type 1 oi1, osteogenesis imperfecta type i

    oi1, osteogenesis imperfecta type i

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    Associated cell lines:
  119. Pain agnosia

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

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

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

    parkinson disease, parkinson's disease

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    Associated cell lines:
  122. Patau syndrome d1 trisomy , trisomy 13

    d1 trisomy , trisomy 13

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  123. Pelizaeus-Merzbacher disease diffuse familial brain sclerosis, pelizaeus-merzbacher brain sclerosis, pmd, sudanophilic leukodystrophy, paelizeus-merzbacher type

    diffuse familial brain sclerosis, pelizaeus-merzbacher brain sclerosis, pmd, sudanophilic leukodystrophy, paelizeus-merzbacher type

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  124. Prader-Willi syndrome prader-labhart-willi syndrome, willi-prader syndrome

    prader-labhart-willi syndrome, willi-prader syndrome

    Ontology Lookup Service
    Associated cell lines:
  125. Primary ciliary dyskinesia pcd

    pcd

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    Associated cell lines:
  126. Progressive supranuclear palsy psp syndrome

    psp syndrome

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  127. proliferative diabetic retinopathy pdr, proliferative diabetic retinopathy

    pdr, proliferative diabetic retinopathy

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    Associated cell lines:
  128. Prolonged QT interval long qt syndrome, prolong qt interval on ekg

    long qt syndrome, prolong qt interval on ekg

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  129. prostate adenocarcinoma adenocarcinoma of prostate, adenocarcinoma of prostate (disorder), adenocarcinoma of the prostate, cancer of prostate, cancer of the prostate, cancer, prostate, cancer, prostatic, cancers, prostate, cancers, prostatic, neopl prostate, neopl prostatic, neoplasm, prostate, neoplasm, prostatic, neoplasms, prostate, neoplasms, prostatic, prostate cancer, prostate cancers, prostate neopl, prostate neoplasm, prostate neoplasms, prostatic cancer, prostatic cancers, prostatic neopl, prostatic neoplasm, prostatic neoplasms

    adenocarcinoma of prostate, adenocarcinoma of prostate (disorder), adenocarcinoma of the prostate, cancer of prostate, cancer of the prostate, cancer, prostate, cancer, prostatic, cancers, prostate, cancers, prostatic, neopl prostate, neopl prostatic, neoplasm, prostate, neoplasm, prostatic, neoplasms, prostate, neoplasms, prostatic, prostate cancer, prostate cancers, prostate neopl, prostate neoplasm, prostate neoplasms, prostatic cancer, prostatic cancers, prostatic neopl, prostatic neoplasm, prostatic neoplasms

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    Associated cell lines:
  130. Proximal spinal muscular atrophy type 1 infantile spinal muscular atrophy, sma type 1, sma type i, sma-i, sma1, werdnig-hoffmann disease

    infantile spinal muscular atrophy, sma type 1, sma type i, sma-i, sma1, werdnig-hoffmann disease

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    Associated cell lines:
  131. Proximal spinal muscular atrophy type 2 chronic infantile spinal muscular atrophy, chronic spinal muscular atrophy, intermediate spinal muscular atrophy, sma type 2, sma type ii, sma-ii, sma2

    chronic infantile spinal muscular atrophy, chronic spinal muscular atrophy, intermediate spinal muscular atrophy, sma type 2, sma type ii, sma-ii, sma2

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    Associated cell lines:
  132. Proximal spinal muscular atrophy type 3 juvenile spinal muscular atrophy, kugelberg-welander disease, sma type 3, sma type iii, sma-iii, sma3

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

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  133. Rare genetic neurological disorder

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  134. Rare hereditary ataxia

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  135. Retinitis pigmentosa

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  136. Retinoblastoma

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  137. Rubinstein-Taybi syndrome broad thumb-hallux syndrome, broad thumbs-halluces syndrome

    broad thumb-hallux syndrome, broad thumbs-halluces syndrome

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

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

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    Associated cell lines:
  139. Schizophrenia schizophrenia

    schizophrenia

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    Associated cell lines:
  140. Smith-Magenis syndrome 17p11.2 microdeletion syndrome

    17p11.2 microdeletion syndrome

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    Associated cell lines:
  141. Spastic paraplegia spastic paraplegia, lower limb

    spastic paraplegia, lower limb

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  142. Spinal Muscular Atrophy spinal muscular atrophy

    spinal muscular atrophy

    Ontology Lookup Service
    Associated cell lines:
  143. Spinocerebellar ataxia type 3 azorean disease of the nervous system, machado disease, machado-joseph disease, mjd, nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, sca3

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

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  144. Steinert myotonic dystrophy dm1, md1, myotonic dystrophy type 1, steinert disease

    dm1, md1, myotonic dystrophy type 1, steinert disease

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    Associated cell lines:
  145. systemic mastocytosis smcd - systemic mast cell disease, systemic tissue mast cell disease

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

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  146. Tay-Sachs disease disease, tay-sachs, hexosaminidase a deficiency

    disease, tay-sachs, hexosaminidase a deficiency

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    Associated cell lines:
  147. Tricuspid Valve Insufficiency insufficiency, tricuspid, tricuspid insufficiency, tricuspid valve insufficiency

    insufficiency, tricuspid, tricuspid insufficiency, tricuspid valve insufficiency

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  148. Trisomy 21 trisomy 21

    trisomy 21

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  149. Type 1 Diabetes Mellitus iddm, immune mediated diabetes, insulin dependent diabetes, insulin dependent diabetes mellitus, juvenile diabetes, type 1 diabetes, type 1 diabetes mellitus, type i diabetes, type i diabetes mellitus

    iddm, immune mediated diabetes, insulin dependent diabetes, insulin dependent diabetes mellitus, juvenile diabetes, type 1 diabetes, type 1 diabetes mellitus, type i diabetes, type i diabetes mellitus

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    Associated cell lines:
  150. tyrosinemia

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

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

    Ontology Lookup Service
  152. Usher syndrome retinitis pigmentosa-deafness syndrome, ush

    retinitis pigmentosa-deafness syndrome, ush

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  153. Usher syndrome

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    Associated cell lines:
  154. von Hippel-Lindau disease hippel lindau syndrome, von hippel-lindau syndrome, von hippel-lindau syndrome (disorder), von hippel-lindau syndrome (vhl)

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

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  155. Williams syndrome deletion 7q11.23, monosomy 7q11.23, williams-beuren syndrome

    deletion 7q11.23, monosomy 7q11.23, williams-beuren syndrome

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  156. X-linked creatine transporter deficiency creatine transporter deficiency, slc6a8 deficiency

    creatine transporter deficiency, slc6a8 deficiency

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    Associated cell lines:
  157. X-linked myopathy with excessive autophagy xmea

    xmea

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    Associated cell lines: