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Summary Literature (1)
DOID:11723 - Duchenne muscular dystrophy


Disease Ontology Definition:A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

Synonyms: Muscular dystrophy, Duchenne

In OMIM:
OMIM:310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

In Mondo Disease Ontology:
MONDO:0010679 - Duchenne muscular dystrophy

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : dmd.2, myf6, dmd.3, dmd.1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): muscular dystrophy (is_a)