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Summary Literature (0)
DOID:0090038 - torsion dystonia 2


Disease Ontology Definition:A dystonia characterized by autosomal recessive inheritance of dystonia initially of the distal limbs and later involving the neck, orofacial, and craniocervical regions that has_material_basis_in homozygous or compound heterozygous mutation in the HPCA gene on chromosome 1p35.

Synonyms:


In Mondo Disease Ontology:
MONDO:0009141 - torsion dystonia 2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hpca

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): dystonia (is_a)