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:0000772 | Abnormal rib morphology |
| HP:0000889 | Abnormal clavicle morphology |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0000974 | Hyperextensible skin |
| HP:0001252 | Hypotonia |
| HP:0001373 | Joint dislocation |
| HP:0001382 | Joint hypermobility |
| HP:0001385 | Hip dysplasia |
| HP:0001387 | Joint stiffness |
| HP:0001511 | Intrauterine growth retardation |
