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
diastrophic dysplasia
Summary
- Definition
- An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:14687
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002093 | Respiratory insufficiency |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002514 | Cerebral calcification |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002983 | Micromelia |
| HP:0003042 | Elbow dislocation |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0005280 | Depressed nasal bridge |
| HP:0005916 | Abnormal metacarpal morphology |
