FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term oculoectodermal syndrome ID (Ontology) DOID:0111705 (Human Disease)
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.
Also Known As "aplasia cutis congenita-epibulbar dermoids syndrome" ; "Toriello-Lacassie-Droste syndrome"
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 Genes
 oculoectodermal syndrome       1
 for disease ribbon | oculoectodermal syndrome       1
 model of | oculoectodermal syndrome       1
Spanning Tree (Parents/Children)
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  syndrome
   |__ectodermal dysplasia
       |__oculoectodermal syndrome  1 rec.
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Is a ectodermal dysplasia
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Synonyms
  • "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT
    "Toriello-Lacassie-Droste syndrome" EXACT
Secondary IDs
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GARD:10366
MESH:C563969
MIM:600268
ORDO:3339
SNOMEDCT_US_2023_03_01:723554006
UMLS_CUI:C1838329