Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
retinitis pigmentosa 59

Summary
Synonym
  • RP59
Definition
A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.
Super Class
autosomal recessive disease retinitis pigmentosa
External Links
Disease Ontology
DOID:0110352
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
The Human Phenotype Ontology
Displaying entries 31 - 40 of 45 in total
HPO ID HPO Term
HP:0000083 Renal insufficiency
HP:0001511 Intrauterine growth retardation
HP:0000028 Cryptorchidism
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0000510 Rod-cone dystrophy
HP:0011505 Cystoid macular edema
HP:0001257 Spasticity
HP:0000007 Autosomal recessive inheritance
HP:0002240 Hepatomegaly
HP:0008936 Axial hypotonia
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
About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024