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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:0000047 | Hypospadias |
| HP:0000365 | Hearing impairment |
| HP:0000036 | Abnormal penis morphology |
| HP:0000486 | Strabismus |
| HP:0000256 | Macrocephaly |
| HP:0000014 | Abnormality of the bladder |
| HP:0000463 | Anteverted nares |
| HP:0000069 | Abnormality of the ureter |
| HP:0000502 | Abnormal conjunctiva morphology |
| HP:0000039 | Epispadias |
