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 31 - 40 of 41 in total
Gene ID Gene Symbol Description Source
26503 SLC17A5 solute carrier family 17 member 5
29925 GMPPB GDP-mannose pyrophosphorylase B
54936 ADPRS ADP-ribosylserine hydrolase
55768 NGLY1 N-glycanase 1
56623 INPP5E inositol polyphosphate-5-phosphatase E
64419 MTMR14 myotubularin related protein 14
78989 COLEC11 collectin subfamily member 11
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
145173 B3GLCT beta 3-glucosyltransferase
199857 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit

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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