autosomal dominant Emery-Dreifuss muscular dystrophy 7 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant Emery-Dreifuss muscular dystrophy 7 (DOID:0070252)
Alliance: disease page
Synonyms: EDMD7; Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Alt IDs: OMIM:614302
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.

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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