| Metadata | |
|---|---|
| ID | DOID:0110292 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2O |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/18195152 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2O [EXACT] MDDGC3 [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 [EXACT] muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related [EXACT] |
| Parent Relationships |