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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:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000974 | Hyperextensible skin |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0001003 | Multiple lentigines |
| HP:0001004 | Lymphedema |
| HP:0001048 | Cavernous hemangioma |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
