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Metadata
ID DOID:0112377
Name muscular dystrophy-dystroglycanopathy type B14
Definition A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
https://pubmed.ncbi.nlm.nih.gov/23768512/
Xrefs

MIM:615351
Synonyms

congenital muscular dystrophy GMPPB-related [EXACT]

MDDGB14 [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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