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Metadata
ID	DOID:0112378
Name	muscular dystrophy-dystroglycanopathy type B3
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. https://pubmed.ncbi.nlm.nih.gov/19067344/, https://pubmed.ncbi.nlm.nih.gov/19299310/
Xrefs	MIM:613151
Synonyms	congenital muscular dystrophy POMGNT1-related [EXACT] MDDGB3 [EXACT]
Parent Relationships	is_a muscular dystrophy-dystroglycanopathy type B is_a autosomal recessive disease