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cardiofaciocutaneous syndrome 1
Summary
- Synonym
-
- CFC1
- Definition
- A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.
- Super Class
- autosomal dominant disease cardiofaciocutaneous syndrome
External Links
- Disease Ontology
- DOID:0111460
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000400 | Macrotia |
| HP:0000280 | Coarse facial features |
| HP:0000504 | Abnormality of vision |
| HP:0000218 | High palate |
| HP:0000478 | Abnormality of the eye |
| HP:0000343 | Long philtrum |
| HP:0000126 | Hydronephrosis |
| HP:0000465 | Webbed neck |
| HP:0000293 | Full cheeks |
| HP:0000494 | Downslanted palpebral fissures |
