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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:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000256 | Macrocephaly |
| HP:0000293 | Full cheeks |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000396 | Overfolded helix |
| HP:0000592 | Blue sclerae |
