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Echinobase
Summary Literature (0)
DOID:0111187 - distal muscular dystrophy with anterior tibial onset

Disease Ontology Definition:A distal muscular dystrophy 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 or compound heterozygous mutation in DYSF on 2p13.

Synonyms: DMAT,

Echinobase Genes :


OMIM:
MIM:606768 - myopathy, distal, with anterior tibial onset; dmat

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): distal muscular dystrophy (is_a)