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
spondyloepiphyseal dysplasia Kimberley type
Summary
- Synonym
-
- SEDK
- Definition
- A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
- Super Class
- autosomal dominant disease spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112282
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16112 | Aggrecan core protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002857 | Genu valgum |
| HP:0003370 | Flat capital femoral epiphysis |
