Search Ontology:
Human Disease

oculoectodermal syndrome

Term ID
DOID:0111705
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. (2)
References
Ontology
Human Disease   ( DOID:0111705 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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