Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B14

Term ID
DOID:0112377
Synonyms
  • congenital muscular dystrophy GMPPB-related
  • MDDGB14
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/
References
Ontology
Human Disease   ( DOID:0112377 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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