OBO ID: DOID:0111705
Term Name: oculoectodermal syndrome Search Ontology:
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 oculoectodermal syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KRAS Oculoectodermal syndrome, somatic 600268
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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