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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive limb-girdle muscular dystrophy type 2X
Summary
- Synonym
-
- LGMD2X
- muscular dystrophy, limb-girdle, type 2X
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110290
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 394408 | bves.L | blood vessel epicardial substance L homeolog | Xenopus laevis (African clawed frog) | |
| 779321 | bves.S | blood vessel epicardial substance S homeolog | Xenopus laevis (African clawed frog) | |
| 100144641 | bves | blood vessel epicardial substance | Xenopus tropicalis (tropical clawed frog) |
