oculoectodermal syndrome Disease Ontology Browser

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Disease Ontology Browser

oculoectodermal syndrome (DOID:0111705)
Alliance: disease page
Synonyms: aplasia cutis congenita-epibulbar dermoids syndrome; Toriello-Lacassie-Droste syndrome
Alt IDs: OMIM:600268, MESH:C563969, ORDO:3339, UMLS_CUI:C1838329
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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