|
DOID:0111242 - congenital muscular dystrophy-dystroglycanopathy type A6
Disease Ontology Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
Synonyms: MDDGA6, Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee