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Huntington Disease

Disease ID: disease_node_4042

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DbxrefGARD:6677, ICD10CM:G10, ICD9CM:333.4, KEGG:05016, MESH:D006816, MIM:143100, NCI:C82342, SNOMEDCT_US_2023_03_01:58756001, UMLS_CUI:C0020179
SubclassofDOID_1289
Data SourceDOID, MESH
SynonymsHD, Huntington disease, Huntington's chorea
Mesh IdD006816
Mesh LabelHuntington Disease
Mesh SubclassofD003704, D002819, D020271, D001480
Doid LabelHuntington's disease
Doid DescriptionA neurodegenerative disease that has_material_basis_in autosomal domit 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.
Disease Node Iddisease_node_4042
Doid IdDOID_12858
LabelHuntington Disease