Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2N
Summary
- Synonym
-
- LGMD2N
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
- muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110298
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKY4 | Protein O-mannosyl-transferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0011712 | Right bundle branch block |
| HP:0002119 | Ventriculomegaly |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0001328 | Specific learning disability |
| HP:0003691 | Scapular winging |
| HP:0007126 | Proximal amyotrophy |
| HP:0002355 | Difficulty walking |
| HP:0001263 | Global developmental delay |
| HP:0003697 | Scapuloperoneal amyotrophy |
