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MIRAGE
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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50443 | Sulfate transporter |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q62273 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010582 | Irregular epiphyses |
| HP:0000331 | Short chin |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0001076 | Glabellar hemangioma |
| HP:0001052 | Nevus flammeus |
| HP:0001249 | Intellectual disability |
| HP:0001234 | Hitchhiker thumb |
| HP:0008608 | Hypertrophic auricular cartilage |
