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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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003196 | Short nose |
| HP:0000625 | Eyelid coloboma |
| HP:0008749 | Laryngeal hypoplasia |
| HP:0001561 | Polyhydramnios |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001057 | Aplasia cutis congenita |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0000639 | Nystagmus |
| HP:0002836 | Bladder exstrophy |
| HP:0100559 | Lower limb asymmetry |
