Preferred Label : Huntington disease;
Symbol : HD;
CISMeF acronym : HD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Huntington chorea;
Description : Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder
with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive
decline, and behavioral difficulties. There is progressive, selective neural cell
loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review
of Huntington disease, including clinical features, population genetics, molecular
biology, and animal models.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by a trinucleotide repeat expansion (CAG)n in the huntingtin gene (HTT, 613004.0001);
Prefixed ID : #143100;
Origin ID : 143100;
UMLS CUI : C0020179;
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT