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
Displaying all 10 entries
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024