Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B15

Term ID
DOID:0112376
Synonyms
  • congenital muscular dystrophy DPM3-related
  • MDDGB15
Definition
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. https://pubmed.ncbi.nlm.nih.gov/31469168/
References
Ontology
Human Disease   ( DOID:0112376 )
Relationships
is a type of
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Genes Involved
Zebrafish Models