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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 |
|---|---|---|---|
| 8443 | GNPAT | glyceronephosphate O-acyltransferase | |
| 8540 | AGPS | alkylglycerone phosphate synthase | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 55858 | TMEM165 | transmembrane protein 165 | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 347527 | ARSH | arylsulfatase family member H |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15392 | Delta(24)-sterol reductase | |
| Q15738 | Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating | |
| Q86Y38 | Xylosyltransferase 1 | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q99519 | Sialidase-1 | |
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 |
