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MIRAGE
retinitis pigmentosa 2

Summary
Synonym
  • RP2
Definition
A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.
Super Class
X-linked monogenic disease retinitis pigmentosa
Disease Ontology
DOID:0110415
Mondo Disease Ontology
MeSH
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
56350 Arl3 ADP-ribosylation factor-like 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9WUL7 ADP-ribosylation factor-like protein 3
The Human Phenotype Ontology
Displaying entries 11 - 20 of 28 in total
HPO ID HPO Term
HP:0000602 Ophthalmoplegia
HP:0000505 Visual impairment
HP:0000639 Nystagmus
HP:0000563 Keratoconus
HP:0000662 Nyctalopia
HP:0000543 Optic disc pallor
HP:0000613 Photophobia
HP:0001347 Hyperreflexia
HP:0001249 Intellectual disability
HP:0001513 Obesity
Displaying all 7 entries
Gene ID Gene Symbol Description
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
5158 PDE6B phosphodiesterase 6B
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
762 CA4 carbonic anhydrase 4
79947 DHDDS dehydrodolichyl diphosphate synthase 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: December 8, 2025