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
blepharophimosis
Summary
- Definition
- An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids.
- Super Class
- eyelid disease physical disorder
External Links
- Disease Ontology
- DOID:10348
- Mondo Disease Ontology
- MeSH
- UMLS
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5648 | MASP1 | MBL associated serine protease 1 | |
| 7841 | MOGS | mannosyl-oligosaccharide glucosidase | |
| 9993 | DGCR2 | DiGeorge syndrome critical region gene 2 | |
| 10082 | GPC6 | glypican 6 | |
| 10584 | COLEC10 | collectin subfamily member 10 | |
| 78989 | COLEC11 | collectin subfamily member 11 | |
| 81031 | SLC2A10 | solute carrier family 2 member 10 |
Related Glycoprotein
