Huntington's disease

Term ID

DOID:12858

Synonyms

• HD
• Huntington disease
• Huntington's chorea

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. (2)

References

• GARD:6677
• ICD10CM:G10
• ICD9CM:333.4
• KEGG:05016
• MESH:D006816
• MIM:143100
• NCI:C82342
• SNOMEDCT_US_2023_03_01:58756001
• UMLS_CUI:C0020179

Ontology

Human Disease   ( DOID:12858 )