OBO ID: DOID:0112381
Term Name: muscular dystrophy-dystroglycanopathy type C12 Search Ontology:
Synonyms:
  • LGMD due to POMK deficiency
  • Limb-girdle muscular dystrophy due to POMK deficiency
  • MDDGC12
  • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Definition: A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in POMK on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24925318/
References:
Ontology: Human Disease   (DOID:0112381)
OTHER muscular dystrophy-dystroglycanopathy type C12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMK ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 616094
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None