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oculoectodermal syndrome
Summary
- Synonym
-
- Toriello-Lacassie-Droste syndrome
- aplasia cutis congenita-epibulbar dermoids 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.
- Super Class
- ectodermal dysplasia
External Links
- Disease Ontology
- DOID:0111705
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001442 | Typified by somatic mosaicism |
| HP:0000533 | Chorioretinal atrophy |
| HP:0002326 | Transient ischemic attack |
| HP:0012683 | Pineal cyst |
| HP:0001250 | Seizure |
| HP:0100955 | Giant cell granuloma of mandible |
| HP:0001631 | Atrial septal defect |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0005280 | Depressed nasal bridge |
| HP:0001639 | Hypertrophic cardiomyopathy |
