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Repository for lectin-assisted multimodality data
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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01116 | GTPase KRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000625 | Eyelid coloboma |
| HP:0000365 | Hearing impairment |
| HP:0001561 | Polyhydramnios |
| HP:0000047 | Hypospadias |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0003196 | Short nose |
| HP:0000506 | Telecanthus |
| HP:0000036 | Abnormal penis morphology |
| HP:0000581 | Blepharophimosis |
| HP:0001508 | Failure to thrive |
