torsion dystonia 2

Summary

DOID:0090038 - torsion dystonia 2

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hpca

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009141 - craniocervical region vein

MONDO:0009141 - craniocervical region vein

MIM:

MIM:224500 - DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

MIM:224500 - DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), dystonia (is_a)