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Standards Ontologies Notations
retinitis pigmentosa 13

Summary
Synonym
  • RP13
Definition
A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.
Super Class
autosomal dominant disease retinitis pigmentosa
External Links
Disease Ontology
DOID:0110403
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P43034 Platelet-activating factor acetylhydrolase IB subunit beta
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0000035 Abnormal testis morphology
HP:0000135 Hypogonadism
HP:0000405 Conductive hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000501 Glaucoma
HP:0000505 Visual impairment
HP:0000512 Abnormal electroretinogram
HP:0000543 Optic disc pallor
HP:0000546 Retinal degeneration
HP:0000563 Keratoconus
Displaying all 6 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
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: August 19, 2024