Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type C12

Term ID
DOID:0112381
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 the POMK gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24925318/
References
Ontology
Human Disease   ( DOID:0112381 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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