Diseases associated to hPSCreg cell lines

  1. 7q11.23 microduplication syndrome

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

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

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    Associated cell lines:
  3. Activated PI3K-delta syndrome apds, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

    apds, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

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    Associated cell lines:
  4. Acute lymphoblastic leukemia acute lymphatic leukemia, acute lymphoblastic leukaemia, acute lymphocytic leukemia, acute lymphoid leukemia

    acute lymphatic leukemia, acute lymphoblastic leukaemia, acute lymphocytic leukemia, acute lymphoid leukemia

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    Associated cell lines:
  5. Acute myeloid leukemia acute myeloblastic leukemia, acute myelocytic leukemia, acute myelogenous leukemia, acute myeloid leukaemia, aml

    acute myeloblastic leukemia, acute myelocytic leukemia, acute myelogenous leukemia, acute myeloid leukaemia, aml

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    Associated cell lines:
  6. 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:
  7. 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:
  8. age-related macular degeneration aamd - age related macular degeneration, age relat maculopathies, age relat maculopathy, age related macular degeneration, age related macular degeneration (disorder) [ambiguous], age related maculopathies, age related maculopathy, age-related macular degeneration, age-related macular degeneration (disorder), age-related macular degenerations, age-related maculopathies, age-related maculopathy, amd, amd - age-related macular degeneration, amended, armd, armd - age-related macular degeneration, degeneration, age-related macular, degeneration, macular, degenerations, age-related macular, degenerations, macular, dystrophies, macular, dystrophy, macular, macular degeneration, macular degeneration (disorder), macular degeneration (senile) of retina, unspecified, macular degeneration nos, macular degeneration, age-related, macular degenerations, macular degenerations, age-related, macular dystrophies, macular dystrophy, maculopathies age relat, maculopathies, age related, maculopathies, age-related, maculopathy age relat, maculopathy, age related, maculopathy, age-related, senile macular degeneration, senile macular degeneration of retina, senile macular retinal degeneration, smd - senile macular degeneration, unspecified senile macular degeneration

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

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

    allan-herndon-dudley syndrome, mct8-specific thyroid hormone cell membrane transporter deficiency, monocarboxylate transporter 8 deficiency

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    Associated cell lines:
  10. 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:
  11. Alpha-1-antitrypsin deficiency

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    Associated cell lines:
  12. 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:
  13. Alport syndrome alport deafness-nephropathy, alport hearing loss-nephropathy

    alport deafness-nephropathy, alport hearing loss-nephropathy

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  14. Alzheimer's Disease alzheimer dementia, alzheimer disease, alzheimer's dementia, alzheimer's disease

    alzheimer dementia, alzheimer disease, alzheimer's dementia, alzheimer's disease

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

    als, lou gehrig's disease, motor neuron disease, bulbar

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    Associated cell lines:
  17. Amyotrophic lateral sclerosis als, charcot disease, lou gehrig disease

    als, charcot disease, lou gehrig disease

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

    als, amyotrophic lateral sclerosis, lou gehrig disease

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    Associated cell lines:
  19. amyotrophic lateral sclerosis als, als (amyotrophic lateral sclerosis), als - amyotrophic lateral sclerosis, 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, 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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  20. amyotrophic lateral sclerosis type 10 als10, amyotrophic lateral sclerosis 10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia, tardbp-related frontotemporal lobar degeneration with tdp43 inclusions

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

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    Associated cell lines:
  21. Androgen insensitivity syndrome ais, androgen resistance syndrome, goldberg-maxwell syndrome, morris syndrome, testicular feminization syndrome

    ais, androgen resistance syndrome, goldberg-maxwell syndrome, morris syndrome, testicular feminization syndrome

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    Associated cell lines:
  22. anemia

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    Associated cell lines:
  23. Ankylosing Spondylitis ankylosing spondylitis

    ankylosing spondylitis

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

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

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    Associated cell lines:
  25. anti-social behavior

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    Associated cell lines:
  26. Aplastic anemia

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

    arrhythmogenic right ventricular dysplasia, arvc, arvd

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    Associated cell lines:
  28. arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular cardiomyopathy 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5

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

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    Associated cell lines:
  29. arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular cardiomyopathy 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9

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

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    Associated cell lines:
  30. 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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  31. 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:
  32. atrioventricular block av block

    av block

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  33. 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:
  34. Autism autism, autistic disorder

    autism, autistic disorder

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    Associated cell lines:
  35. Autism autism

    autism

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  36. autism spectrum disorder autism spectrum disease, autism spectrum disorder, autism spectrum disorders, autistic spectrum disorder, child development dis pervasive, child development disorders, pervasive, development disorder, pervasive, development disorders, pervasive, disorder, autism spectrum, disorder, pervasive development, disorders, autism spectrum, disorders, pervasive development, pervasive child development dis, pervasive child development disorders, pervasive development disorder, pervasive development disorders, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

    autism spectrum disease, autism spectrum disorder, autism spectrum disorders, autistic spectrum disorder, child development dis pervasive, child development disorders, pervasive, development disorder, pervasive, development disorders, pervasive, disorder, autism spectrum, disorder, pervasive development, disorders, autism spectrum, disorders, pervasive development, pervasive child development dis, pervasive child development disorders, pervasive development disorder, pervasive development disorders, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

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

    autism spectrum disorder, pervasive developmental disorders

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    Associated cell lines:
  38. autism spectrum disorder

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

    spinocerebellar ataxia

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    Associated cell lines:
  40. autosomal dominant Parkinson disease 1

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    Associated cell lines:
  41. 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 disease, autosomal dominant, 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 disease, autosomal dominant, polycystic kidney, autosomal dominant, polycystic kidneys - adult type

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

    infantile malignant osteopetrosis 2, optb4

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    Associated cell lines:
  43. Bardet-Biedl syndrome bbs

    bbs

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  44. Batten disease juvenile neuronal ceroid lipofuscinosis

    juvenile neuronal ceroid lipofuscinosis

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

    benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

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    Associated cell lines:
  46. Becker muscular dystrophy becker dystrophinopathy, bmd

    becker dystrophinopathy, bmd

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    Associated cell lines:
  47. 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:
  48. bestrophinopathy autosomal recessive bestrophinopathy

    autosomal recessive bestrophinopathy

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    Associated cell lines:
  49. beta thalassemia

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  50. 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:
  51. 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, 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, major affective disorder, 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, 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, major affective disorder, 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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  52. 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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  53. Brugada Syndrome brugada syndrome, right bundle branch block, st segment elevation, and sudden death syndrome

    brugada syndrome, right bundle branch block, st segment elevation, and sudden death syndrome

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    Associated cell lines:
  54. 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:
  55. Cardiomyopathy cardiomyopathy

    cardiomyopathy

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  56. Cardiotoxicity cardiac toxicity, cardiotoxicity, toxicity, cardiac

    cardiac toxicity, cardiotoxicity, toxicity, cardiac

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    Associated cell lines:
  57. 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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  58. Central Hypothyroidism central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency, tsh deficiency

    central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency, tsh deficiency

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    Associated cell lines:
  59. Cerebellar Ataxia

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  60. 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:
  61. 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:
  62. CHARGE Syndrome charge syndrome, coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association

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

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

    bile occlusion, obstruction of bile duct

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    Associated cell lines:
  64. Chorioretinal atrophy chorioretinal thinning

    chorioretinal thinning

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  65. chromosomal disease

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

    distal 16p11.2 microdeletion syndrome

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

    club foot, clubbed foot, clubfoot, talipes, talipes equinovarus

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    Associated cell lines:
  68. Coffin-Siris Syndrome coffin-siris syndrome

    coffin-siris syndrome

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

    beals syndrome, beals-hecht syndrome, cca syndrome, distal arthrogryposis type 9

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    Associated cell lines:
  70. Congenital Hyperinsulinism

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  71. 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:
  72. copper ion binding copper binding

    copper binding

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    Associated cell lines:
  73. corticobasal degeneration

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

    cerebral creatine deficiency syndrome 1, slc6a8 deficiency

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    Associated cell lines:
  75. 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:
  76. Cystic Fibrosis cystic fibrosis

    cystic fibrosis

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  77. Cystic fibrosis cf, mucoviscidosis

    cf, mucoviscidosis

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  78. Danon disease antopol disease, pseudoglycogenosis ii

    antopol disease, pseudoglycogenosis ii

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    Associated cell lines:
  79. Deafness, Autosomal Recessive 1A deafness, autosomal recessive 1a, dfnb1a

    deafness, autosomal recessive 1a, dfnb1a

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

    dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

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

    desmin-related myofibrillar myopathy

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    Associated cell lines:
  82. Developmental Delay delayed developmental milestones, developmental delay

    delayed developmental milestones, developmental delay

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

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

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  84. Dilated Cardiomyopathy congestive cardiomyopathy, dilated cardiomyopathy

    congestive cardiomyopathy, dilated cardiomyopathy

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    Associated cell lines:
  85. dilated cardiomyopathy

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    Associated cell lines:
  86. DMD

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  87. DMD

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  88. 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:
  89. 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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  90. 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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  91. drug-induced liver injury drug-induced liver disease, drug-induced liver injury, hepatitis, drug-induced, hepatitis, toxic, liver injury, drug-induced, toxic hepatitis

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

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  92. Duchenne muscular dystrophy muscular dystrophy, duchenne

    muscular dystrophy, duchenne

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

    dmd, severe dystrophinopathy, duchenne type

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

    duchenne, duchenne muscular dystrophy

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  95. Emery-Dreifuss Muscular Dystrophy emery-dreifuss muscular dystrophy

    emery-dreifuss muscular dystrophy

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  96. Emery-Dreifuss muscular dystrophy edmd

    edmd

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    Associated cell lines:
  97. 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:
  98. epidermolysis bullosa acantholysis bullosa

    acantholysis bullosa

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

    epidermolysis bullosa simplex

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

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

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  101. Epileptic encephalopathy convulsive encephalopathy

    convulsive encephalopathy

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  102. epileptic encephalopathy, early infantile, 26

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    Associated cell lines:
  103. Fabry Disease alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

    alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

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    Associated cell lines:
  104. 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:
  105. 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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  106. 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:
  107. facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 1b, facioscapulohumeral muscular dystrophy type 2, fshd2

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

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  108. factor VIII deficiency congenital factor viii disorder, hemophilia a, subhemophilia

    congenital factor viii disorder, hemophilia a, subhemophilia

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

    adenomatous polyposis of the colon

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

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

    Ontology Lookup Service
    Associated cell lines:
  111. 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:
  112. Familial long QT syndrome congenital long qt syndrome

    congenital long qt syndrome

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

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

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    Associated cell lines:
  114. Familial platelet disorder with associated myeloid malignancy familial platelet disorder with predisposition to acute myelogenous leukemia, familial platelet disorder with predisposition to myeloid malignancy, familial platelet disorder with propensity to acute myeloid leukemia, familial thrombocytopenia with propensity to acute myelogenous leukemia, fpd/aml, fpdmm, fps/aml

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

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    Associated cell lines:
  115. Familial progressive cardiac conduction defect familial lenègre disease, familial lev disease, familial lev-lenègre disease, familial pccd, familial progressive heart block, hereditary bundle branch defect

    familial lenègre disease, familial lev disease, familial lev-lenègre disease, familial pccd, familial progressive heart block, hereditary bundle branch defect

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    Associated cell lines:
  116. Fanconi anemia fanconi pancytopenia

    fanconi pancytopenia

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    Associated cell lines:
  117. FG syndrome keller syndrome, opitz-kaveggia syndrome

    keller syndrome, opitz-kaveggia syndrome

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    Associated cell lines:
  118. 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:
  119. focal segmental glomerulosclerosis fgs, fgs (focal glomerular sclerosis), focal glomerular sclerosis, focal glomerulosclerosis, focal segmental glomerulosclerosis, fsgs, fsgs - focal segmental glomerulosclerosis, glomerulonephritis, focal sclerosing, glomerulosclerosis, glomerulosclerosis, focal, glomerulosclerosis, focal segmental

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

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  120. Fragile X Syndrome fragile x syndrome

    fragile x syndrome

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    Associated cell lines:
  121. Fragile X syndrome frax syndrome, fraxa syndrome, fxs, martin-bell syndrome

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

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  122. Frontotemporal dementia ftd

    ftd

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  123. Gabriele-de Vries syndrome yy1 haploinsufficiency syndrome

    yy1 haploinsufficiency syndrome

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    Associated cell lines:
  124. Gaucher disease acid beta-glucosidase deficiency, glucocerebrosidase deficiency

    acid beta-glucosidase deficiency, glucocerebrosidase deficiency

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    Associated cell lines:
  125. Gaucher disease type 3 cerebral juvenile and adult form of gaucher disease, chronic neuronopathic gaucher disease, gaucher disease, subacute neuronopathic type

    cerebral juvenile and adult form of gaucher disease, chronic neuronopathic gaucher disease, gaucher disease, subacute neuronopathic type

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    Associated cell lines:
  126. Genetic macular dystrophy

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  127. glycogen storage disease glycogenosis

    glycogenosis

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    Associated cell lines:
  128. Glycogen Storage Disease glycogen storage disease

    glycogen storage disease

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    Associated cell lines:
  129. Glycogen storage disease due to GLUT2 deficiency bickel-fanconi glycogenosis, fanconi-bickel disease, glycogen storage disease type 11, glycogen storage disease type xi, glycogenosis due to glut2 deficiency, gsd due to glut2 deficiency, gsd type 11, gsd type xi

    bickel-fanconi glycogenosis, fanconi-bickel disease, glycogen storage disease type 11, glycogen storage disease type xi, glycogenosis due to glut2 deficiency, gsd due to glut2 deficiency, gsd type 11, gsd type xi

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    Associated cell lines:
  130. 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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  131. Hemophilia A factor viii deficiency, hemophilia a, hereditary factor viii deficiency, hereditary factor viii deficiency disease

    factor viii deficiency, hemophilia a, hereditary factor viii deficiency, hereditary factor viii deficiency disease

    Ontology Lookup Service
  132. Hereditary Hemorrhagic Telangiectasia hereditary hemorrhagic telangiectasia, osler-weber-rendu disease, telangiectasia, hereditary hemorrahagic, of rendu, osler

    hereditary hemorrhagic telangiectasia, osler-weber-rendu disease, telangiectasia, hereditary hemorrahagic, of rendu, osler

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  133. 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:
  134. Hereditary Spastic Paraplegia hereditary spastic paraplegia

    hereditary spastic paraplegia

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    Associated cell lines:
  135. 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:
  136. Huntington disease huntington chorea

    huntington chorea

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

    hd, huntington disease, huntington's chorea, huntington's disease

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

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

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  140. Hypertrophic Cardiomyopathy hypertrophic cardiomyopathy

    hypertrophic cardiomyopathy

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    Associated cell lines:
  141. Hypertrophic cardiomyopathy

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

    berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, immunoglobulin a nephropathy, nephropathy, iga, primary iga nephropathy, segmental glomerulonephritis

    Ontology Lookup Service
    Associated cell lines:
  143. 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)

    Ontology Lookup Service
  144. inflammatory disease anatomical structure inflammation, inflammation of anatomical structure, inflammatory disease, inflammatory disorder

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

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    Associated cell lines:
  145. intellectual developmental disorder 61

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    Associated cell lines:
  146. Intellectual Disability intellectual disabilities, intellectual disability

    intellectual disabilities, intellectual disability

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  147. Intellectual disability intellectual disability, mental deficiency, mental retardation, mental retardation, nonspecific, mental-retardation, nonprogressive intellectual disability, nonprogressive mental retardation

    intellectual disability, mental deficiency, mental retardation, mental retardation, nonspecific, mental-retardation, nonprogressive intellectual disability, nonprogressive mental retardation

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    Associated cell lines:
  148. Jervell and Lange-Nielsen syndrome long qt interval-deafness syndrome

    long qt interval-deafness syndrome

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    Associated cell lines:
  149. 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:
  150. Juvenile amyotrophic lateral sclerosis jals, juvenile charcot disease, juvenile lou gehrig disease

    jals, juvenile charcot disease, juvenile lou gehrig disease

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

    jhd, juvenile huntington chorea

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    Associated cell lines:
  152. 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:
  153. Kabuki Syndrome kabuki make-up syndrome, kabuki syndrome, kms, niikawa-kuroki syndrome

    kabuki make-up syndrome, kabuki syndrome, kms, niikawa-kuroki syndrome

    Ontology Lookup Service
  154. Kabuki syndrome kabuki make-up syndrome, niikawa-kuroki syndrome

    kabuki make-up syndrome, niikawa-kuroki syndrome

    Ontology Lookup Service
  155. Keratoconjunctivitis sicca dry eyes, keratitis sicca, xerophthalmia

    dry eyes, keratitis sicca, xerophthalmia

    Ontology Lookup Service
    Associated cell lines:
  156. Kleefstra Syndrome chromosome 9q34.3 deletion syndrome, kleefstra syndrome

    chromosome 9q34.3 deletion syndrome, kleefstra syndrome

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    Associated cell lines:
  157. Klinefelter syndrome 47, xxy, hypogonadotropic hypogonadism, klinefelter's syndrome, xxy syndrome, xxy trisomy

    47, xxy, hypogonadotropic hypogonadism, klinefelter's syndrome, xxy syndrome, xxy trisomy

    Ontology Lookup Service
  158. Klinefelter's syndrome 47,xxy syndrome, hypogonadotropic hypogonadism, klinefelter syndrome, klinefelter's syndrome, klinefelter's syndrome, xxy, xxy syndrome, xxy syndrome (klinefelter syndrome), xxy trisomy

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

    Ontology Lookup Service
  159. 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:
  160. Leber Congenital Amaurosis leber congenital amaurosis

    leber congenital amaurosis

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    Associated cell lines:
  161. Left ventricular noncompaction cardiomyopathy left ventricular non-compaction cardiomyopathy

    left ventricular non-compaction cardiomyopathy

    Ontology Lookup Service
    Associated cell lines:
  162. Leukemia blood (leukemia), leukemia, leukemia nos, leukemia, disease, leukemia, malignant, leukemia, nos, leukemias, leukemias, general

    blood (leukemia), leukemia, leukemia nos, leukemia, disease, leukemia, malignant, leukemia, nos, leukemias, leukemias, general

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    Associated cell lines:
  163. 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

    Ontology Lookup Service
    Associated cell lines:
  164. 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:
  165. 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)

    Ontology Lookup Service
    Associated cell lines:
  166. Long QT Syndrome long qt syndrome, ventricular arrhythmia associated with long qt syndrome

    long qt syndrome, ventricular arrhythmia associated with long qt syndrome

    Ontology Lookup Service
    Associated cell lines:
  167. long QT syndrome 1 lqt1, ventricular fibrillation with prolonged qt interval

    lqt1, ventricular fibrillation with prolonged qt interval

    Ontology Lookup Service
  168. Long QT Syndrome 1 long qt syndrome 1, lqt1, romano-ward syndrome

    long qt syndrome 1, lqt1, romano-ward syndrome

    Ontology Lookup Service
  169. Long QT Syndrome 2 long qt syndrome 2, lqt2

    long qt syndrome 2, lqt2

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

    long qt syndrome 3, lqt3

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    Associated cell lines:
  171. Long QT Syndrome 8 long qt syndrome 8, lqt8, timothy syndrome

    long qt syndrome 8, lqt8, timothy syndrome

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    Associated cell lines:
  172. Marfan syndrome mfs

    mfs

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  173. Mental Retardation mental retardation

    mental retardation

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    Associated cell lines:
  174. Mental Retardation, Autosomal Dominant 39 mental retardation, autosomal dominant 39, mrd39

    mental retardation, autosomal dominant 39, mrd39

    Ontology Lookup Service
    Associated cell lines:
  175. 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 disorder, migraine disorders, migraine headache, migraine headaches, migraine syndrome, cervical, migraine syndromes, cervical, migraine variant, migraine variants, migraine with or without aura, 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 disorder, migraine disorders, migraine headache, migraine headaches, migraine syndrome, cervical, migraine syndromes, cervical, migraine variant, migraine variants, migraine with or without aura, 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

    Ontology Lookup Service
  176. Mild Cognitive Impairment

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    Associated cell lines:
  177. mitochondrial DNA depletion syndrome mtdna depletion syndrome

    mtdna depletion syndrome

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    Associated cell lines:
  178. MODY maturity-onset diabetes of the young

    maturity-onset diabetes of the young

    Ontology Lookup Service
  179. monogenic diabetes monogenic diabetes mellitus

    monogenic diabetes mellitus

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  180. monogenic disease

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

    22q13 deletion, phelan-mcdermid syndrome

    Ontology Lookup Service
    Associated cell lines:
  182. motor neuron disease anterior horn cell dis, anterior horn cell disease, disease of motor neuron, disease or disorder of motor neuron, disorder of motor neuron, 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, motor neuron disease or disorder, 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, disease of motor neuron, disease or disorder of motor neuron, disorder of motor neuron, 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, motor neuron disease or disorder, 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

    Ontology Lookup Service
    Associated cell lines:
  183. Muenke Syndrome muenke syndrome

    muenke syndrome

    Ontology Lookup Service
    Associated cell lines:
  184. multiple myeloma cell myeloma, plasma, cell myelomas, plasma, disease, kahler, kahler disease, kahler's disease, medullary plasmacytoma, mult mye w/o achv rmson, mult myelm w/o remission, multiple myeloma, multiple myeloma (clinical), multiple myeloma (disorder), multiple myeloma without mention of having achieved remission, multiple myeloma without mention of remission, multiple myeloma, morphology (morphologic abnormality), multiple myeloma, no icd-o subtype, multiple myeloma, no icd-o subtype (morphologic abnormality), multiple myeloma/plasma cell myeloma, multiple myelomas, myeloid neoplasm of plasma cell, myeloma, myeloma multiple, myeloma, multiple, myeloma, nos, myeloma, plasma cell, myeloma, plasma cell, malignant, myeloma, plasma-cell, myeloma-multiple, myeloma-multiples, myelomas, multiple, myelomas, plasma cell, myelomas, plasma-cell, myelomatoses, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma, plasma cell myelomas, plasma-cell myeloma, plasma-cell myelomas, plasmacytic myeloma, [m]plasma cell myeloma

    cell myeloma, plasma, cell myelomas, plasma, disease, kahler, kahler disease, kahler's disease, medullary plasmacytoma, mult mye w/o achv rmson, mult myelm w/o remission, multiple myeloma, multiple myeloma (clinical), multiple myeloma (disorder), multiple myeloma without mention of having achieved remission, multiple myeloma without mention of remission, multiple myeloma, morphology (morphologic abnormality), multiple myeloma, no icd-o subtype, multiple myeloma, no icd-o subtype (morphologic abnormality), multiple myeloma/plasma cell myeloma, multiple myelomas, myeloid neoplasm of plasma cell, myeloma, myeloma multiple, myeloma, multiple, myeloma, nos, myeloma, plasma cell, myeloma, plasma cell, malignant, myeloma, plasma-cell, myeloma-multiple, myeloma-multiples, myelomas, multiple, myelomas, plasma cell, myelomas, plasma-cell, myelomatoses, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma, plasma cell myelomas, plasma-cell myeloma, plasma-cell myelomas, plasmacytic myeloma, [m]plasma cell myeloma

    Ontology Lookup Service
    Associated cell lines:
  185. Multiple Sclerosis multiple sclerosis

    multiple sclerosis

    Ontology Lookup Service
    Associated cell lines:
  186. 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

    Ontology Lookup Service
    Associated cell lines:
  187. 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

    Ontology Lookup Service
    Associated cell lines:
  188. 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

    Ontology Lookup Service
    Associated cell lines:
  189. myopathy myopathy

    myopathy

    Ontology Lookup Service
    Associated cell lines:
  190. myotonic disease

    Ontology Lookup Service
    Associated cell lines:
  191. 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

    Ontology Lookup Service
  192. neuroblastoma neuroblastoma (schwannian stroma-poor)

    neuroblastoma (schwannian stroma-poor)

    Ontology Lookup Service
    Associated cell lines:
  193. 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

    Ontology Lookup Service
  194. Neurofibromatosis neurofibromatosis, neurofibromatosis syndrome

    neurofibromatosis, neurofibromatosis syndrome

    Ontology Lookup Service
    Associated cell lines:
  195. Neurofibromatosis type 1 nf1, von recklinghausen disease

    nf1, von recklinghausen disease

    Ontology Lookup Service
  196. neuropathy

    Ontology Lookup Service
  197. Neuropathy, Hereditary Sensory and Autonomic, Type V hsan5, neuropathy, hereditary sensory and autonomic, type v

    hsan5, neuropathy, hereditary sensory and autonomic, type v

    Ontology Lookup Service
    Associated cell lines:
  198. Niemann-Pick disease type C

    Ontology Lookup Service
    Associated cell lines:
  199. Nijmegen Breakage Syndrome nijmegen breakage syndrome

    nijmegen breakage syndrome

    Ontology Lookup Service
    Associated cell lines:
  200. normal health, normalcy, normalities, normality

    health, normalcy, normalities, normality

    Ontology Lookup Service
    Associated cell lines:
  201. obsessive-compulsive disorder anancastic neurosis, obsessive compulsive disorder, obsessive-compulsive disorder, ocd

    anancastic neurosis, obsessive compulsive disorder, obsessive-compulsive disorder, ocd

    Ontology Lookup Service
    Associated cell lines:
  202. obsessive-compulsive disorder ocd

    ocd

    Ontology Lookup Service
    Associated cell lines:
  203. Osteogenesis Imperfecta osteogenesis imperfecta

    osteogenesis imperfecta

    Ontology Lookup Service
    Associated cell lines:
  204. osteogenesis imperfecta brittle bone disease, lobstein's syndrome, osteopsathyrosis, vrolik's disease

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

    Ontology Lookup Service
    Associated cell lines:
  205. osteogenesis imperfecta type 1 oi1, osteogenesis imperfecta type i

    oi1, osteogenesis imperfecta type i

    Ontology Lookup Service
    Associated cell lines:
  206. pain agnosia agnosia for pain, analgesia, pain agnosia

    agnosia for pain, analgesia, pain agnosia

    Ontology Lookup Service
    Associated cell lines:
  207. Parkinson's Disease parkinson disease, parkinson's disease

    parkinson disease, parkinson's disease

    Ontology Lookup Service
  208. 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, 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, 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

    Ontology Lookup Service
    Associated cell lines:
  209. Parkinson's disease paralysis agitans, parkinson disease

    paralysis agitans, parkinson disease

    Ontology Lookup Service
    Associated cell lines:
  210. Parkinson's disease 7 autosomal recessive early-onset parkinson disease 7, autosomal recessive early-onset parkinson's disease 7

    autosomal recessive early-onset parkinson disease 7, autosomal recessive early-onset parkinson's disease 7

    Ontology Lookup Service
    Associated cell lines:
  211. Paroxysmal atrial fibrillation atrial fibrillation, paroxysmal

    atrial fibrillation, paroxysmal

    Ontology Lookup Service
    Associated cell lines:
  212. Paroxysmal ventricular tachycardia episodes of ventricular tachycardia

    episodes of ventricular tachycardia

    Ontology Lookup Service
    Associated cell lines:
  213. Patau syndrome d1 trisomy , trisomy 13

    d1 trisomy , trisomy 13

    Ontology Lookup Service
  214. 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

    Ontology Lookup Service
  215. Pendred Syndrome pendred syndrome

    pendred syndrome

    Ontology Lookup Service
    Associated cell lines:
  216. peripartum cardiomyopathy antepartum peripartum cardiomyopathy, peripartum cardiomyopathy, postpartum cardiomyopathy, postpartum cardiomyopathy (disorder), postpartum peripartum cardiomyopathy, puerperal cardiomyopathy

    antepartum peripartum cardiomyopathy, peripartum cardiomyopathy, postpartum cardiomyopathy, postpartum cardiomyopathy (disorder), postpartum peripartum cardiomyopathy, puerperal cardiomyopathy

    Ontology Lookup Service
  217. Prader-Willi syndrome prader-labhart-willi syndrome

    prader-labhart-willi syndrome

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

    pcd

    Ontology Lookup Service
    Associated cell lines:
  219. Primary erythromelalgia primary erythermalgia

    primary erythermalgia

    Ontology Lookup Service
  220. Progressive supranuclear palsy psp syndrome

    psp syndrome

    Ontology Lookup Service
  221. proliferative diabetic retinopathy pdr, proliferative diabetic retinopathy

    pdr, proliferative diabetic retinopathy

    Ontology Lookup Service
    Associated cell lines:
  222. Prolonged QT interval long qt syndrome, prolong qt interval on ekg

    long qt syndrome, prolong qt interval on ekg

    Ontology Lookup Service
  223. propionic acidemia glycinemia, ketotic, ketotic glycinemia, ketotic hyperglycinemia, ketotic ii glycinemia, propionic aciduria, propionyl-coa carboxylase deficiency

    glycinemia, ketotic, ketotic glycinemia, ketotic hyperglycinemia, ketotic ii glycinemia, propionic aciduria, propionyl-coa carboxylase deficiency

    Ontology Lookup Service
    Associated cell lines:
  224. 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 adenocarcinoma, prostate cancer, prostate cancers, prostate gland adenocarcinoma, 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 adenocarcinoma, prostate cancer, prostate cancers, prostate gland adenocarcinoma, prostate neopl, prostate neoplasm, prostate neoplasms, prostatic cancer, prostatic cancers, prostatic neopl, prostatic neoplasm, prostatic neoplasms

    Ontology Lookup Service
    Associated cell lines:
  225. 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

    Ontology Lookup Service
    Associated cell lines:
  226. 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

    Ontology Lookup Service
  227. 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

    Ontology Lookup Service
  228. psoriasis other and unspecified pityriasis, other psoriasis, other psoriasis and similar disorders, other psoriasis and similar disorders (disorder), other psoriasis and similar disorders excluding psoriatic arthropathy, palmoplantaris pustulosis, pityriasis nec & nos, psorias related dis nec, psoriases, psoriasis, psoriasis and similar disorders, psoriasis and similar disorders (disorder), psoriasis and similar disorders (navigational concept), psoriasis and similar disorders nos, psoriasis and similar disorders nos (disorder), pustular psoriasis of palms and soles, pustular psoriasis of palms soles, pustulosis of palms and soles, pustulosis of palms soles, pustulosis palmaris et plantaris

    other and unspecified pityriasis, other psoriasis, other psoriasis and similar disorders, other psoriasis and similar disorders (disorder), other psoriasis and similar disorders excluding psoriatic arthropathy, palmoplantaris pustulosis, pityriasis nec & nos, psorias related dis nec, psoriases, psoriasis, psoriasis and similar disorders, psoriasis and similar disorders (disorder), psoriasis and similar disorders (navigational concept), psoriasis and similar disorders nos, psoriasis and similar disorders nos (disorder), pustular psoriasis of palms and soles, pustular psoriasis of palms soles, pustulosis of palms and soles, pustulosis of palms soles, pustulosis palmaris et plantaris

    Ontology Lookup Service
  229. Psoriasis psoriasis

    psoriasis

    Ontology Lookup Service
  230. Pulmonary Arterial Hypertension pah, pulmonary arterial hypertension

    pah, pulmonary arterial hypertension

    Ontology Lookup Service
    Associated cell lines:
  231. Rare genetic neurological disorder

    Ontology Lookup Service
  232. Rare hereditary ataxia

    Ontology Lookup Service
  233. Restrictive Cardiomyopathy restrictive cardiomyopathy

    restrictive cardiomyopathy

    Ontology Lookup Service
    Associated cell lines:
  234. Retinitis pigmentosa

    Ontology Lookup Service
  235. Retinitis Pigmentosa retinitis pigmentosa

    retinitis pigmentosa

    Ontology Lookup Service
  236. Retinoblastoma

    Ontology Lookup Service
  237. Retinoblastoma rb, retinoblastoma, retinoblastoma, malignant

    rb, retinoblastoma, retinoblastoma, malignant

    Ontology Lookup Service
  238. Rubinstein-Taybi syndrome broad thumb-hallux syndrome, broad thumbs-halluces syndrome

    broad thumb-hallux syndrome, broad thumbs-halluces syndrome

    Ontology Lookup Service
  239. Sanfilippo syndrome type C heparan-alpha-glucosaminide n-acetyltransferase deficiency, hgsnat deficiency, mps3c, mpsiiic, mucopolysaccharidosis type 3c, mucopolysaccharidosis type iiic

    heparan-alpha-glucosaminide n-acetyltransferase deficiency, hgsnat deficiency, mps3c, mpsiiic, mucopolysaccharidosis type 3c, mucopolysaccharidosis type iiic

    Ontology Lookup Service
    Associated cell lines:
  240. 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)

    Ontology Lookup Service
    Associated cell lines:
  241. Schizophrenia schizophrenia

    schizophrenia

    Ontology Lookup Service
  242. Senior-Loken syndrome nephronophthisis with retinal dystrophy, renal dysplasia-retinal aplasia syndrome, slsn

    nephronophthisis with retinal dystrophy, renal dysplasia-retinal aplasia syndrome, slsn

    Ontology Lookup Service
    Associated cell lines:
  243. Sick sinus syndrome sinoatrial node disease

    sinoatrial node disease

    Ontology Lookup Service
    Associated cell lines:
  244. Sickle cell anemia sickle cell disease

    sickle cell disease

    Ontology Lookup Service
    Associated cell lines:
  245. SIRT6

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

    17p11.2 microdeletion syndrome

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

    spastic paraplegia, lower limb

    Ontology Lookup Service
  248. Spinal Muscular Atrophy spinal muscular atrophy

    spinal muscular atrophy

    Ontology Lookup Service
    Associated cell lines:
  249. Spinal Muscular Atrophy Type 3 juvenile spinal muscular atrophy, kugelberg-welander disease, kugelberg-welander syndrome, spinal muscular atrophy iii, spinal muscular atrophy type 3

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

    Ontology Lookup Service
    Associated cell lines:
  250. Spinocerebellar Ataxia Type 1 sca1, spinocerebellar ataxia type 1

    sca1, spinocerebellar ataxia type 1

    Ontology Lookup Service
  251. Spinocerebellar ataxia type 1 sca1

    sca1

    Ontology Lookup Service
    Associated cell lines:
  252. Spinocerebellar Ataxia Type 3 machado-joseph disease, sca3, spinocerebellar ataxia type 3

    machado-joseph disease, sca3, spinocerebellar ataxia type 3

    Ontology Lookup Service
    Associated cell lines:
  253. 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

    Ontology Lookup Service
  254. Spinocerebellar Ataxia Type 6 sca6, spinocerebellar ataxia type 6

    sca6, spinocerebellar ataxia type 6

    Ontology Lookup Service
    Associated cell lines:
  255. sporadic amyotrophic lateral sclerosis sporadic amyotrophic lateral sclerosis

    sporadic amyotrophic lateral sclerosis

    Ontology Lookup Service
  256. Stargardt Disease stargardt disease

    stargardt disease

    Ontology Lookup Service
    Associated cell lines:
  257. Stargardt disease stargardt disease 1

    stargardt disease 1

    Ontology Lookup Service
    Associated cell lines:
  258. Steinert myotonic dystrophy dm1, md1, myotonic dystrophy type 1, steinert disease

    dm1, md1, myotonic dystrophy type 1, steinert disease

    Ontology Lookup Service
    Associated cell lines:
  259. syndromic X-linked intellectual disability Cabezas type cabezas syndrome; syndromic x-linked mental retardation 15, mental retardation, x-linked, syndromic 15, mental retardation, x-linked, syndromic 15 (cabezas type), mrss, mrxs15, mrxsc, x-linked mental retardation with short stature, x-linked mental retardation with short stature, hypogonadism, and abnormal gait

    cabezas syndrome; syndromic x-linked mental retardation 15, mental retardation, x-linked, syndromic 15, mental retardation, x-linked, syndromic 15 (cabezas type), mrss, mrxs15, mrxsc, x-linked mental retardation with short stature, x-linked mental retardation with short stature, hypogonadism, and abnormal gait

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

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

    Ontology Lookup Service
  261. Tay-Sachs disease disease, tay-sachs, hexosaminidase a deficiency

    disease, tay-sachs, hexosaminidase a deficiency

    Ontology Lookup Service
    Associated cell lines:
  262. Thalassemia sickle-cell thalassemia with crisis, sickle-cell thalassemia without crisis, thalassemia, thalassemia hb-s disease with crisis, thalassemia hb-s disease without crisis, α- and β-thalassemia

    sickle-cell thalassemia with crisis, sickle-cell thalassemia without crisis, thalassemia, thalassemia hb-s disease with crisis, thalassemia hb-s disease without crisis, α- and β-thalassemia

    Ontology Lookup Service
  263. Tourette Syndrome gilles de la tourette syndrome, tourette syndrome, tourette's syndrome

    gilles de la tourette syndrome, tourette syndrome, tourette's syndrome

    Ontology Lookup Service
    Associated cell lines:
  264. transthyretin amyloidosis amyloidosis, hereditary, transthyretin-related, corino de andrade's disease, familial amyloid polyneuropathy, familial transthyretin amyloidosis, paramyloidosis, transthyretin-related hereditary amyloidosis, ttr amyloidosis

    amyloidosis, hereditary, transthyretin-related, corino de andrade's disease, familial amyloid polyneuropathy, familial transthyretin amyloidosis, paramyloidosis, transthyretin-related hereditary amyloidosis, ttr amyloidosis

    Ontology Lookup Service
    Associated cell lines:
  265. Transthyretin cardiac amyloidosis ttr cardiac amyloidosis

    ttr cardiac amyloidosis

    Ontology Lookup Service
    Associated cell lines:
  266. Trisomy 21 trisomy 21

    trisomy 21

    Ontology Lookup Service
  267. Type 1 Diabetes Mellitus diabetes, type i+a3139:g3152, 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

    diabetes, type i+a3139:g3152, 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

    Ontology Lookup Service
    Associated cell lines:
  268. type 2 diabetes mellitus niddm, non-insulin-dependent diabetes mellitus, type 2 diabetes, type ii diabetes mellitus

    niddm, non-insulin-dependent diabetes mellitus, type 2 diabetes, type ii diabetes mellitus

    Ontology Lookup Service
  269. tyrosinemia

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

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

    retinitis pigmentosa-deafness syndrome, ush

    Ontology Lookup Service
  272. Usher syndrome

    Ontology Lookup Service
    Associated cell lines:
  273. 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)

    Ontology Lookup Service
  274. Waardenburg syndrome van der hoeve halbertsona waardenburg syndrome, waardenburg shah syndrome, waardenburg syndrome, waardenburg's syndrome, ws

    van der hoeve halbertsona waardenburg syndrome, waardenburg shah syndrome, waardenburg syndrome, waardenburg's syndrome, ws

    Ontology Lookup Service
    Associated cell lines:
  275. Waardenburg Syndrome waardenburg syndrome, waardenburg's syndrome

    waardenburg syndrome, waardenburg's syndrome

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    Associated cell lines:
  276. Walker-Warburg syndrome cerebroocular dysplasia-muscular dystrophy syndrome, hard syndrome

    cerebroocular dysplasia-muscular dystrophy syndrome, hard syndrome

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    Associated cell lines:
  277. Weaver Syndrome weaver syndrome, weaver-smith syndrome, wvs

    weaver syndrome, weaver-smith syndrome, wvs

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

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

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  279. Williams-Beuren syndrome fanconi schlesinger syndrome

    fanconi schlesinger syndrome

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  280. Wilson disease hepatolenticular degeneration

    hepatolenticular degeneration

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  281. Wolfram syndrome 1

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    Associated cell lines:
  282. X-linked creatine transporter deficiency creatine transporter deficiency, slc6a8 deficiency

    creatine transporter deficiency, slc6a8 deficiency

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    Associated cell lines:
  283. X-linked intellectual disability with marfanoid habitus lujan syndrome, lujan-fryns syndrome

    lujan syndrome, lujan-fryns syndrome

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

    xmea

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    Associated cell lines:
  285. Young-onset Parkinson disease early-onset parkinson disease, yopd

    early-onset parkinson disease, yopd

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    Associated cell lines: