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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:0000028 | Cryptorchidism |
| HP:0000126 | Hydronephrosis |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000256 | Macrocephaly |
| HP:0000276 | Long face |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000293 | Full cheeks |
