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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
- 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: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 |
