fundus dystrophy

Summary
Synonym
  • Retinal Dystrophy
Super Class
eye disease
External Links
Disease Ontology
DOID:8501
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying entries 11 - 20 of 26 in total
Gene ID Gene Symbol Description Source
6448 SGSH N-sulfoglucosamine sulfohydrolase
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
10908 PNPLA6 patatin like phospholipase domain containing 6
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
56623 INPP5E inositol polyphosphate-5-phosphatase E
79147 FKRP fukutin related protein
79644 SRD5A3 steroid 5 alpha-reductase 3

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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