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
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Summary
- Synonym
-
- CATSHL syndrome
- Definition
- A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:0111160
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22607 | Fibroblast growth factor receptor 3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9I8X3 | Fibroblast growth factor receptor 3 |
