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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
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100560 | Upper limb asymmetry |
| HP:0100569 | Abnormally ossified vertebrae |
| HP:0100702 | Arachnoid cyst |
| HP:0000272 | Malar flattening |
| HP:0000365 | Hearing impairment |
| HP:0000470 | Short neck |
| HP:0000501 | Glaucoma |
| HP:0000639 | Nystagmus |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000969 | Edema |
