craniofrontonasal syndrome
Information
- Disease name
- craniofrontonasal syndrome
- Disease ID
- DOID:14737
- Description
- "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton." [url:https\://www.omim.org/entry/304110, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00339846 | Completed | Genetic Analysis of Craniofrontonasal Syndrome | January 5, 2005 | September 17, 2008 |
- Exact Synonym (Disease Ontology)
- CFND
- Exact Synonym (Disease Ontology)
- CFNS
- Exact Synonym (Disease Ontology)
- craniofrontonasal dysostosis
- Exact Synonym (Disease Ontology)
- craniofrontonasal dysplasia
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:1578
- Cross Reference ID (Disease Ontology)
- MESH:C536456
- Cross Reference ID (Disease Ontology)
- MIM:304110
- Cross Reference ID (Disease Ontology)
- ORDO:1520
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715421009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220767