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Standards Ontologies Notations
retinitis pigmentosa

Summary
Synonym
  • pericentral pigmentary retinopathy
Definition
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Super Class
retinal degeneration
External Links
Disease Ontology
DOID:10584
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 40 of 67 in total
Gene ID Gene Symbol Description Source
5621 PRNP prion protein (Kanno blood group)
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
5728 PTEN phosphatase and tensin homolog
6120 RPE ribulose-5-phosphate-3-epimerase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D
6441 SFTPD surfactant protein D
6448 SGSH N-sulfoglucosamine sulfohydrolase
6785 ELOVL4 ELOVL fatty acid elongase 4
Displaying all 4 entries
Gene ID Gene Symbol Description Source
15275 Hk1 hexokinase 1
16591 Kl klotho
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
216019 Hkdc1 hexokinase domain containing 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25058 Hk1 hexokinase 1
83504 Kl Klotho
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
43191 Hex-t2 Hexokinase testis 2
117364 Hex-t1 Hexokinase testis 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 4 entries
Gene ID Gene Symbol Description Source Organism
402789 st3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Xenopus tropicalis (tropical clawed frog)
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
850317 GLK1 glucokinase
850614 HXK1 hexokinase 1
852128 EMI2 putative glucokinase
852639 HXK2 hexokinase 2
Related Glycoprotein
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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