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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:0008872 | Feeding difficulties in infancy |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0010669 | Hypoplasia of the zygomatic bone |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0200102 | Sparse or absent eyelashes |
