autosomal recessive limb-girdle muscular dystrophy type 2S Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive limb-girdle muscular dystrophy type 2S (DOID:0110287)
Alliance: disease page
Synonyms: LGMD2S; muscular dystrophy, limb-girdle, type 2S
Alt IDs: OMIM:615356, ICD10CM:G71.0, ORDO:369840
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.

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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