Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
campomelic dysplasia
Summary
- Synonym
-
- Acampomelic Campomelic Dysplasia
- Definition
- An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 1120 | CHKB | choline kinase beta | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2218 | FKTN | fukutin | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3960 | LGALS4 | galectin 4 | |
| 4351 | MPI | mannose phosphate isomerase | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
Related Glycoprotein
