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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:0003577 | Congenital onset |
| HP:0000470 | Short neck |
| HP:0001680 | Coarctation of aorta |
| HP:0000242 | Parietal bossing |
| HP:0001004 | Lymphedema |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0000483 | Astigmatism |
| HP:0002558 | Supernumerary nipple |
| HP:0000384 | Preauricular skin tag |
| HP:0001263 | Global developmental delay |
