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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
Disease Ontology
DOID:0110403
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10594 PRPF8 pre-mRNA processing factor 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
192159 Prpf8 pre-mRNA processing factor 8
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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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024