loading...| Preferred Name |
Huntington's disease |
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| Synonyms |
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| Definitions |
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12858 |
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| definition |
A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. |
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| hasDbXref |
KEGG:05016 ICD9CM:333.4 NCI:C82342 SNOMEDCT_US_2016_03_01:155006000 OMIM:143100 ICD10CM:G10 SNOMEDCT_US_2016_03_01:58756001 MESH:D006816 UMLS_CUI:C0020179 |
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| hasExactSynonym |
HD Huntington's chorea Huntington disease |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:12858 |
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| imported from | ||
| inSubset | ||
| label |
Huntington's disease |
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| prefixIRI |
DOID:12858 |
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| prefLabel |
Huntington's disease |
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| subClassOf |
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