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Standards Ontologies Notations
retinitis pigmentosa 4

Summary
Synonym
  • RP4
Definition
A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.
Super Class
autosomal dominant disease autosomal recessive disease retinitis pigmentosa
External Links
Disease Ontology
DOID:0110372
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6010 RHO rhodopsin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30044 Opn4 opsin 4 (melanopsin)
212541 Rho rhodopsin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24717 Rho rhodopsin
192223 Opn4 opsin 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
42367 ninaE neither inactivation nor afterpotential E
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30295 rho rhodopsin
562845 rhol rhodopsin, like
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
380209 rho.L rhodopsin L homeolog Xenopus laevis (African clawed frog)
100037900 rho rhodopsin Xenopus tropicalis (tropical clawed frog)
108715858 rho.S rhodopsin S homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0000135 Hypogonadism
HP:0000505 Visual impairment
HP:0000035 Abnormal testis morphology
HP:0000501 Glaucoma
HP:0000405 Conductive hearing impairment
HP:0000639 Nystagmus
HP:0000563 Keratoconus
HP:0001249 Intellectual disability
HP:0000543 Optic disc pallor
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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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: August 19, 2024