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Standards Ontologies Notations
retinitis pigmentosa 73

Summary
Synonym
  • RP73
Definition
A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11.
Super Class
autosomal recessive disease retinitis pigmentosa
External Links
Disease Ontology
DOID:0110389
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q68CP4 Heparan-alpha-glucosaminide N-acetyltransferase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 40 in total
HPO ID HPO Term
HP:0005978 Type II diabetes mellitus
HP:0007675 Progressive night blindness
HP:0007703 Abnormality of retinal pigmentation
HP:0007737 Bone spicule pigmentation of the retina
HP:0007787 Posterior subcapsular cataract
HP:0007843 Attenuation of retinal blood vessels
HP:0007994 Peripheral visual field loss
HP:0008046 Abnormal retinal vascular morphology
HP:0001105 Retinal atrophy
HP:0000551 Color vision defect
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