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Disease Ontology Browser
congenital muscular dystrophy-dystroglycanopathy type A12 (DOID:0111235)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12; MDDGA12; Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
Alt IDs: OMIM:615249
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.

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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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11/12/2024
MGI 6.24 		The Jackson Laboratory