distal myopathy with anterior tibial onset

Summary

DOID:0111187 - distal myopathy with anterior tibial onset

Disease Ontology Definition:A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13.

Synonyms: distal muscular dystrophy with anterior tibial onset, DMAT

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

: dysf

MIM:

MIM:606768 - MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT

MIM:606768 - MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT

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), distal myopathy (is_a)