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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:0001626 | Abnormality of the cardiovascular system |
| HP:0000506 | Telecanthus |
| HP:0001508 | Failure to thrive |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0000581 | Blepharophimosis |
| HP:0012639 | Abnormal nervous system morphology |
| HP:0001156 | Brachydactyly |
| HP:0001999 | Abnormal facial shape |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0001274 | Agenesis of corpus callosum |
