diastrophic dysplasia
Information
- Disease name
- diastrophic dysplasia
- Disease ID
- DOID:14687
- Description
- "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Diastrophic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/diastrophic-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK22219/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:6275
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.5
- Cross Reference ID (Disease Ontology)
- MESH:C536170
- Cross Reference ID (Disease Ontology)
- MIM:222600
- Cross Reference ID (Disease Ontology)
- NCI:C156311
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:58561002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220726