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xanthomatosis
Summary
- Synonym
-
- xanthelasmatosis
- Definition
- A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
- Super Class
- lipid storage disease
External Links
- Disease Ontology
- DOID:3345
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 2053 | EPHX2 | epoxide hydrolase 2 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2817 | GPC1 | glypican 1 | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 |
Related Glycoprotein
