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Muscular Dystrophy-Dystroglycanopathy Type B3

Disease ID: disease_node_17400

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Dbxref	MIM:613151
Subclassof	DOID_0112375, DOID_0050737
Data Source	DOID
Synonyms	MDDGB3, congenital muscular dystrophy POMGNT1-related
Doid Label	muscular dystrophy-dystroglycanopathy type B3
Doid Description	A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_17400
Doid Id	DOID_0112378
Label	Muscular Dystrophy-Dystroglycanopathy Type B3

Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Muscular Dystrophy-Dystroglycanopathy Type B(ID:disease_node_17397) (Disease)

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