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Standards Ontologies Notations
Guidelines
MIRAGE
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
Disease Ontology
DOID:10584
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 24 in total
Gene ID Gene Symbol Description Source
24 ABCA4 ATP binding cassette subfamily A member 4
762 CA4 carbonic anhydrase 4
847 CAT catalase
1258 CNGB1 cyclic nucleotide gated channel subunit beta 1
1259 CNGA1 cyclic nucleotide gated channel subunit alpha 1
3000 GUCY2D guanylate cyclase 2D, retinal
3098 HK1 hexokinase 1
3617 IMPG1 interphotoreceptor matrix proteoglycan 1
5176 SERPINF1 serpin family F member 1
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
21366 Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6
241324 Crb2 crumbs family member 2
320234 Ccdc66 coiled-coil domain containing 66
Displaying 1 entry
Gene ID Gene Symbol Description Source
25022 Fgfr2 fibroblast growth factor receptor 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
42367 ninaE neither inactivation nor afterpotential E
42896 crb crumbs
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30295 rho rhodopsin
557044 eys eyes shut homolog
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P06002 Opsin Rh1
P10040 Protein crumbs
Displaying 1 entry
UniProt ID Protein Name Source
P35359 Rhodopsin
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026