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DOID:0111238 - congenital muscular dystrophy-dystroglycanopathy type A13
Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
Synonyms: MDDGA13, Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related, Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee