| Metadata | |
|---|---|
| ID | DOID:12858 |
| Name | Huntington's disease |
| 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. http://en.wikipedia.org/wiki/Huntington_disease, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple |
| Xrefs |
KEGG:05016 SNOMEDCT_US_2023_03_01:58756001 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
HD [EXACT] Huntington disease [EXACT] Huntington's chorea [EXACT] |
| Parent Relationships |