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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:0001252 | Hypotonia |
| HP:0012745 | Short palpebral fissure |
| HP:0000598 | Abnormality of the ear |
| HP:0008065 | Aplasia/Hypoplasia of the skin |
| HP:0001510 | Growth delay |
| HP:0000520 | Proptosis |
| HP:0004279 | Short palm |
| HP:0001331 | Absent septum pellucidum |
| HP:0011968 | Feeding difficulties |
| HP:0001140 | Limbal dermoid |
