muscular dystrophy-dystroglycanopathy type B3 Disease Ontology Browser

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Disease Ontology Browser

muscular dystrophy-dystroglycanopathy type B3 (DOID:0112378)
Alliance: disease page
Synonyms: congenital muscular dystrophy POMGNT1-related; MDDGB3
Alt IDs: OMIM:613151
Definition: A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.

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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