| Metadata | |
|---|---|
| ID | DOID:0111705 |
| Name | oculoectodermal 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. https://www.ncbi.nlm.nih.gov/pubmed/25808193, https://www.ncbi.nlm.nih.gov/pubmed/26970110 |
| Xrefs |
SNOMEDCT_US_2023_03_01:723554006 |
| Subsets |
DO_rare_slim |
| Synonyms |
aplasia cutis congenita-epibulbar dermoids syndrome [EXACT] Toriello-Lacassie-Droste syndrome [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |