Search Ontology:
Human Disease
muscular dystrophy-dystroglycanopathy type B3
- Term ID
- DOID:0112378
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models