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autosomal recessive limb-girdle muscular dystrophy type 2S
Summary
- Synonym
-
- LGMD2S
- muscular dystrophy, limb-girdle, type 2S
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110287
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 120071 | LARGE2 | LARGE xylosyl- and glucuronyltransferase 2 | |
| 124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
