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 1 - 10 of 41 in total
Gene ID Gene Symbol Description Source
226 ALDOA aldolase, fructose-bisphosphate A
523 ATP6V1A ATPase H+ transporting V1 subunit A
1103 CHAT choline O-acetyltransferase
1312 COMT catechol-O-methyltransferase
1737 DLAT dihydrolipoamide S-acetyltransferase
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
1890 TYMP thymidine phosphorylase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2645 GCK glucokinase
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 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