campomelic dysplasia
Information
- Disease name
- campomelic dysplasia
- Disease ID
- DOID:0050463
- Description
- "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles." [url:http\://en.wikipedia.org/wiki/Campomelic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/campomelic-dysplasia, url:http\://www.healthline.com/galecontent/campomelic-dysplasia-1]
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:10027
- Cross Reference ID (Disease Ontology)
- MESH:D055036
- Cross Reference ID (Disease Ontology)
- MIM:114290
- Cross Reference ID (Disease Ontology)
- NCI:C120205
- Cross Reference ID (Disease Ontology)
- NCI:C84609
- Cross Reference ID (Disease Ontology)
- ORDO:140
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1861922
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1861923
- Exact Synonym (Disease Ontology)
- Acampomelic Campomelic Dysplasia
- OrphaNumber from OrphaNet (Orphanet)
- 140
- MeSH unique ID (MeSH (Medical Subject Headings))
- D055036