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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cardiofaciocutaneous syndrome 3
Summary
- Synonym
-
- CFC3
- Definition
- A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.
- Super Class
- autosomal dominant disease cardiofaciocutaneous syndrome
External Links
- Disease Ontology
- DOID:0111462
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000256 | Macrocephaly |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000028 | Cryptorchidism |
| HP:0000463 | Anteverted nares |
| HP:0000286 | Epicanthus |
| HP:0000486 | Strabismus |
| HP:0000238 | Hydrocephalus |
| HP:0000348 | High forehead |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0000276 | Long face |
