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 11 - 20 of 41 in total
Gene ID Gene Symbol Description Source
3423 IDS iduronate 2-sulfatase
4534 MTM1 myotubularin 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5332 PLCB4 phospholipase C beta 4
5648 MASP1 MBL associated serine protease 1
5728 PTEN phosphatase and tensin homolog
6309 SC5D sterol-C5-desaturase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6392 SDHD succinate dehydrogenase complex subunit D
6519 SLC3A1 solute carrier family 3 member 1

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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