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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002093 | Respiratory insufficiency |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002514 | Cerebral calcification |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002983 | Micromelia |
| HP:0003042 | Elbow dislocation |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0005280 | Depressed nasal bridge |
| HP:0005916 | Abnormal metacarpal morphology |
