Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chondrodysplasia punctata
Summary
- Synonym
-
- Chondrodysplasia punctata congenita
- Definition
- A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
- Super Class
- monogenic disease syndrome
External Links
- Disease Ontology
- DOID:2581
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 411 | ARSB | arylsulfatase B | |
| 412 | STS | steroid sulfatase | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 2222 | FDFT1 | farnesyl-diphosphate farnesyltransferase 1 | |
| 2990 | GUSB | glucuronidase beta | |
| 4758 | NEU1 | neuraminidase 1 | |
| 6307 | MSMO1 | methylsterol monooxygenase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00116 | Alkyldihydroxyacetonephosphate synthase, peroxisomal | |
| O15228 | Dihydroxyacetone phosphate acyltransferase | |
| O43909 | Exostosin-like 3 | |
| P08236 | Beta-glucuronidase | |
| P08842 | Steryl-sulfatase | |
| P15848 | Arylsulfatase B | |
| P37268 | Squalene synthase | |
| P50443 | Sulfate transporter | |
| Q14055 | Collagen alpha-2(IX) chain | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
