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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/19299310/, https://pubmed.ncbi.nlm.nih.gov/19067344/
Xrefs

MIM:613151
Synonyms

congenital muscular dystrophy POMGNT1-related [EXACT]

MDDGB3 [EXACT]
Parent Relationships

is_a autosomal recessive disease

is_a muscular dystrophy-dystroglycanopathy type B
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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