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MIRAGE
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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| HP:0000545 | Myopia |
| HP:0000637 | Long palpebral fissure |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000767 | Pectus excavatum |
