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MIRAGE
oculoectodermal syndrome
Summary
- Synonym
-
- Toriello-Lacassie-Droste syndrome
- aplasia cutis congenita-epibulbar dermoids syndrome
- Definition
- An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.
- Super Class
- ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111705
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01116 | GTPase KRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001057 | Aplasia cutis congenita |
| HP:0001643 | Patent ductus arteriosus |
| HP:0002836 | Bladder exstrophy |
| HP:0000639 | Nystagmus |
| HP:0000431 | Wide nasal bridge |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0005280 | Depressed nasal bridge |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0000482 | Microcornea |
