OBO ID: DOID:0090038
Term Name: torsion dystonia 2 Search Ontology:
Synonyms:
Definition: A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (2)
References:
Ontology: Human Disease   (DOID:0090038)
OTHER torsion dystonia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPCA Dystonia 2, torsion, autosomal recessive 224500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None