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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:0005930 | Abnormal epiphysis morphology |
| HP:0006487 | Bowing of the long bones |
| HP:0008434 | Hypoplastic cervical vertebrae |
| HP:0008921 | Neonatal short-limb short stature |
| HP:0009381 | Short finger |
| HP:0009465 | Ulnar deviation of finger |
| HP:0009623 | Proximal placement of thumb |
| HP:0009748 | Large earlobe |
| HP:0009773 | Symphalangism affecting the phalanges of the hand |
| HP:0011001 | Increased bone mineral density |
