congenital ptosis

Summary
Definition
A ptosis characterized by eyelid drop present at birth.
Super Class
physical disorder ptosis
External Links
Disease Ontology
DOID:0060261
Mondo Disease Ontology
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying entries 21 - 30 of 41 in total
Gene ID Gene Symbol Description Source
8803 SUCLA2 succinate-CoA ligase ADP-forming subunit beta
8867 SYNJ1 synaptojanin 1
8879 SGPL1 sphingosine-1-phosphate lyase 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9126 SMC3 structural maintenance of chromosomes 3
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9394 HS6ST1 heparan sulfate 6-O-sulfotransferase 1
9487 PIGL phosphatidylinositol glycan anchor biosynthesis class L
10584 COLEC10 collectin subfamily member 10
10682 EBP EBP cholestenol delta-isomerase

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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