Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B2

Term ID
DOID:0112380
Synonyms
  • congenital muscular dystrophy POMT2-related
  • MDDGB2
Definition
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. https://pubmed.ncbi.nlm.nih.gov/17634419/
References
Ontology
Human Disease   ( DOID:0112380 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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