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 |
SNOMEDCT_US_2020_03_01:155006000 KEGG:05016 UMLS_CUI:C0020179 ICD9CM:333.4 GARD:6677 OMIM:143100 NCI:C82342 MESH:D006816 ICD10CM:G10 |
| has exact synonym |
HD Huntington's chorea Huntington disease |
| id |
DOID:12858 |
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
| label |
Huntington's disease |
| notation |
DOID:12858 |
| prefLabel |
Huntington's disease |
| textual 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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |