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DOID:0090036 - myoclonic dystonia 26
Disease Ontology Definition:A myoclonic dystonia characterized by autosomal dominant inheritance of myoclonic jerks affecting the upper limbs with onset in the first or second decade of life and progressive development that has_material_basis_in heterozygous mutation in the KCTD17 gene on chromosome 22q12.
Synonyms:
Xenbase Genes
:
kctd17
| MONDO:0014620 - myoclonic dystonia 26 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
myoclonic dystonia (is_a)