Term Name: | oculoectodermal syndrome |
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Synonyms: | aplasia cutis congenita-epibulbar dermoids syndrome, Toriello-Lacassie-Droste 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. |
Ontology: | Human Disease [DOID:0111705] ( DOID:0111705 ) |