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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:0000391 | Thickened helices |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000470 | Short neck |
| HP:0000316 | Hypertelorism |
| HP:0000508 | Ptosis |
| HP:0000545 | Myopia |
| HP:0000637 | Long palpebral fissure |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000767 | Pectus excavatum |
