(Q55782468)

English

phosphoribosylpyrophosphate synthetase superactivity

human disease

PRPS1 superactivity
PRPP synthetase superactivity
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
Gout, Prps-Related

In more languages

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Statements

0 references

0 references

nephropathy secondary to a storage or other metabolic disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010395

syndromic neurometabolic disease with X-linked intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010395

inborn disorder of purine metabolism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010395

X-linked recessive disease

1 reference

30 November 2020

inherited metabolic disorder

1 reference

30 November 2020

2 references

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000147224/MONDO_0010395

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_3222

0 references

http://purl.obolibrary.org/obo/DOID_0111260

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111260

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C567064

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

30 November 2020

Genetics Home Reference Conditions ID

phosphoribosylpyrophosphate-synthetase-superactivity

0 references

ICD-10-CM

E79.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

0 references

(Q55782468)

phosphoribosylpyrophosphate synthetase superactivity

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