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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2O
Summary
- Synonym
-
- LGMD2O
- MDDGC3
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
- muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
- 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.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110292
- Mondo Disease Ontology
- ORDO
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003391 | Gowers sign |
| HP:0012378 | Fatigue |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003701 | Proximal muscle weakness |
| HP:0100297 | Increased endomysial connective tissue |
