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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 31 - 40 of 40 in total
HPO ID HPO Term
HP:0007663 Reduced visual acuity
HP:0000510 Rod-cone dystrophy
HP:0001133 Constriction of peripheral visual field
HP:0011463 Childhood onset
HP:0000622 Blurred vision
HP:0000007 Autosomal recessive inheritance
HP:0001123 Visual field defect
HP:0000603 Central scotoma
HP:0100014 Epiretinal membrane
HP:0003596 Middle age onset
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