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Huntington'S Disease-Like 2

Disease ID: disease_node_16098

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DbxrefICD10CM:G10, MIM:606438, ORDO:98934
SubclassofDOID_1289
Data SourceDOID
SynonymsHDL2, Huntington disease-like 2
Disease Has FeatureDOID_1307
Doid LabelHuntington's disease-like 2
Doid DescriptionA neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal domit inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
Has SymptomSYMP_0000178
Disease Node Iddisease_node_16098
Doid IdDOID_0090104
LabelHuntington'S Disease-Like 2