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DOID:12858 - Huntington's disease
Disease Ontology 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.
Synonyms: HD, Huntington disease, Huntington's chorea
Xenbase Genes : htt
MONDO:0007739 - Huntington disease |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neurodegenerative disease (is_a)