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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 2222 | FDFT1 | farnesyl-diphosphate farnesyltransferase 1 | |
| 8443 | GNPAT | glyceronephosphate O-acyltransferase | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15228 | Dihydroxyacetone phosphate acyltransferase | |
| P08842 | Steryl-sulfatase | |
| P37268 | Squalene synthase | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q15392 | Delta(24)-sterol reductase | |
| Q15738 | Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005280 | Depressed nasal bridge |
| HP:0005756 | Neonatal epiphyseal stippling |
| HP:0006619 | Anterior rib punctate calcifications |
| HP:0008064 | Ichthyosis |
| HP:0008434 | Hypoplastic cervical vertebrae |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0008850 | Severe postnatal growth retardation |
| HP:0010655 | Epiphyseal stippling |
| HP:0010720 | Abnormal hair pattern |
| HP:0100559 | Lower limb asymmetry |
