distal myopathy with anterior tibial onset Disease Ontology Browser

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Disease Ontology Browser

distal myopathy with anterior tibial onset (DOID:0111187)
Alliance: disease page
Synonyms: distal muscular dystrophy with anterior tibial onset; DMAT
Alt IDs: OMIM:606768, ORDO:178400
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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