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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:0001305 | Dandy-Walker malformation |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001508 | Failure to thrive |
| HP:0001561 | Polyhydramnios |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0002119 | Ventriculomegaly |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0002650 | Scoliosis |
| HP:0002777 | Tracheal stenosis |
