cleidocranial dysplasia
Information
- Disease name
- cleidocranial dysplasia
- Disease ID
- DOID:13994
- Description
- "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull." [url:http\://en.wikipedia.org/wiki/Cleidocranial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, url:http\://www.healthline.com/galecontent/cleidocranial-dysplasia-1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, url:https\://www.faces-cranio.org/cleidocranial]
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:6118
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q74.0
- Cross Reference ID (Disease Ontology)
- MESH:D002973
- Cross Reference ID (Disease Ontology)
- MIM:119600
- Cross Reference ID (Disease Ontology)
- MIM:216330
- Cross Reference ID (Disease Ontology)
- NCI:C75020
- Cross Reference ID (Disease Ontology)
- ORDO:1452
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:65976001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0008928
- Exact Synonym (Disease Ontology)
- cleidocranial dysostosis
- Exact Synonym (Disease Ontology)
- Marie-Sainton Disease
- OrphaNumber from OrphaNet (Orphanet)
- 1452
- MeSH unique ID (MeSH (Medical Subject Headings))
- D002973