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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_12858
http://purl.obolibrary.org/obo/DOID_12858
|
|---|---|
| Preferred Name | Huntington's disease |
| 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.
|
| Synonyms |
Huntington's chorea
Huntington disease
HD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Huntington's disease
|
|---|---|
| prefLabel |
Huntington's disease
|
| has cross-reference |
ICD10CM:G10
ICD9CM:333.4
OMIM:143100
SNOMEDCT_US_2020_03_01:155006000
UMLS_CUI:C0020179
MESH:D006816
GARD:6677
KEGG:05016
NCI:C82342
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|
| notation |
DOID:12858
|
| in_subset | |
| id |
DOID:12858
|
| has_obo_namespace |
disease_ontology
|
| 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.
|
| subClassOf | |
| imported from | |
| type | |
| has exact synonym |
Huntington's chorea
Huntington disease
HD
|
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