myoclonic dystonia 26

Summary

DOID:0090036 - myoclonic dystonia 26

Disease Ontology Definition:A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.

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

: kctd17

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014620 - myoclonic dystonia 26

MONDO:0014620 - myoclonic dystonia 26

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

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

Parent(s): autosomal dominant disease (is_a), myoclonic dystonia (is_a)