loading...| Preferred Name |
Huntington's disease |
| Synonyms |
HD |
| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_12858 |
| database_cross_reference |
KEGG:05016 UMLS_CUI:C0020179 ICD9CM:333.4 SNOMEDCT_US_2022_09_01:58756001 GARD:6677 OMIM:143100 NCI:C82342 MESH:D006816 ICD10CM:G10 |
| 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. |
| has exact synonym |
HD Huntington's chorea Huntington disease |
| has_obo_namespace |
disease_ontology |
| id |
DOID:12858 |
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_rare_slim |
| label |
Huntington's disease |
| notation |
DOID:12858 |
| prefLabel |
Huntington's disease |
| subClassOf |