Preferred Name |
Huntington's disease |
|
Synonyms |
Huntington's chorea |
|
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 SNOMEDCT_US_2021_09_01:58756001 ICD9CM:333.4 NCI:C82342 OMIM:143100 GARD:6677 ICD10CM:G10 MESH:D006816 UMLS_CUI:C0020179 |
|
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 |
Huntington's chorea Huntington disease HD |
|
has_obo_namespace |
disease_ontology |
|
IAO_0000115 |
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 |
DOID:12858 |
|
in_subset | ||
label |
Huntington's disease |
|
notation |
DOID:12858 |
|
prefLabel |
Huntington's disease |
|
subClassOf |