|
| General Information | ||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Term | Huntington's disease | ID (Ontology) | DOID:12858 (Human 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. | |||||||||||||||||||||||||||||||||||||||||
| Also Known As | "HD" ; "Huntington disease" ; "Huntington's chorea" | |||||||||||||||||||||||||||||||||||||||||
| Comment | ||||||||||||||||||||||||||||||||||||||||||
| Links to External Ontologies | ||||||||||||||||||||||||||||||||||||||||||
| DO.org | ||||||||||||||||||||||||||||||||||||||||||
| Annotations | ||||||||||||||||||||||||||||||||||||||||||
| Records annotated with this term OR any of its CHILD TERMS | ||||||||||||||||||||||||||||||||||||||||||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
||||||||||||||||||||||||||||||||||||||||||
|
||||||||||||||||||||||||||||||||||||||||||
|
||||||
central nervous system disease |__neurodegenerative disease |__Huntington's disease 1037 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | neurodegenerative disease | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:6677 ICD10CM:G10 ICD9CM:333.4 KEGG:05016 MESH:D006816 MIM:143100 NCI:C82342 SNOMEDCT_US_2023_03_01:58756001 UMLS_CUI:C0020179 |
|||