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Summary Literature (3)
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

Referenced OMIM:
OMIM:143100 - HUNTINGTON DISEASE; HD

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : htt

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): neurodegenerative disease (is_a)


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