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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:0004322 | Short stature |
| HP:0004422 | Biparietal narrowing |
| HP:0005280 | Depressed nasal bridge |
| HP:0006191 | Deep palmar crease |
| HP:0007392 | Excessive wrinkled skin |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0008064 | Ichthyosis |
| HP:0008070 | Sparse hair |
| HP:0008391 | Dystrophic fingernails |
