Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B3

Term ID
DOID:0112378
Synonyms
  • congenital muscular dystrophy POMGNT1-related
  • MDDGB3
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. (2)
References
Ontology
Human Disease   ( DOID:0112378 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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