autosomal dominant limb-girdle muscular dystrophy type 2 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant limb-girdle muscular dystrophy type 2 (DOID:0110304)
Alliance: disease page
Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1F; LGMD1F; muscular dystrophy limb-girdle type 1F
Alt IDs: OMIM:608423, ICD10CM:G71.0, ORDO:55595
Definition: An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

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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