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cardiofaciocutaneous syndrome 4
Summary
- Synonym
-
- CFC4
- Definition
- A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
- Super Class
- autosomal dominant disease cardiofaciocutaneous syndrome
External Links
- Disease Ontology
- DOID:0111463
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36507 | Dual specificity mitogen-activated protein kinase kinase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000348 | High forehead |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000391 | Thickened helices |
| HP:0000400 | Macrotia |
| HP:0000463 | Anteverted nares |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000478 | Abnormality of the eye |
