OBO ID: DOID:0112381 |
Term Name: | muscular dystrophy-dystroglycanopathy type C12 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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 ) |
OTHER muscular dystrophy-dystroglycanopathy type C12 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.