Search Ontology:
Human Disease
oculoectodermal syndrome
- Term ID
- DOID:0111705
- Synonyms
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- 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. (2)
- References
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- GARD:10366
- MESH:C563969
- MIM:600268
- ORDO:3339
- SNOMEDCT_US_2023_03_01:723554006
- UMLS_CUI:C1838329
- Ontology
- Human Disease ( DOID:0111705 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models