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MIRAGE
X-linked chondrodysplasia punctata 2
Summary
- Synonym
-
- Conradi-Hunermann Syndrome
- Happle syndrome
- Definition
- A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
- Super Class
- X-linked dominant disease chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0080352
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000126 | Hydronephrosis |
| HP:0000218 | High palate |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000369 | Low-set ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000482 | Microcornea |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000518 | Cataract |
