Oculoectodermal syndrome

Preferred Label : Oculoectodermal syndrome;

Symbol : OES;

CISMeF acronym : OES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aplasia cutis congenita with epibulbar dermoids;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0024);

Prefixed ID : #600268;

Détails

Origin ID

600268;

UMLS CUI

C1838329;

Automatic exact mappings (from CISMeF team)
- Toriello-Lacassie-Droste syndrome [ICD-11 More detail]
- oculoectodermal syndrome [DO Concept]
Currated CISMeF NLP mapping
- Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) [SNOMED CT concept]
- Toriello-Lacassie-Droste syndrome [ORDO Disease]
- aplasia cutis congenita with epibulbar dermoids [MeSH concept]
- aplasia cutis congenita with epibulbar dermoids [MeSH Supplementary Concept]
DO Cross reference
- oculoectodermal syndrome [DO Concept]
Genes related to phenotype
- Kras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Anisometropia [HPO term]
- Aplasia cutis congenita [HPO term]
- Arachnoid cyst [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bladder exstrophy [HPO term]
- Coarctation of aorta [HPO term]
- Corneal opacity [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Epidermal nevus [HPO term]
- Eyelid coloboma [HPO term]
- Facial asymmetry [HPO term]
- Flattened nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperactivity [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Limbal dermoid [HPO term]
- Lower limb asymmetry [HPO term]
- Lymphedema [HPO term]
- Macrocephaly [HPO term]
- Microcornea [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Parietal bossing [HPO term]
- Patent ductus arteriosus [HPO term]
- Proptosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Somatic mutation [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Transient ischemic attack [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Toriello-Lacassie-Droste syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) [SNOMED CT concept]
- Toriello-Lacassie-Droste syndrome [ORDO Disease]
- aplasia cutis congenita with epibulbar dermoids [MeSH Supplementary Concept]
- aplasia cutis congenita with epibulbar dermoids [MeSH concept]
- oculoectodermal syndrome [DO Concept]

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