(Q54361681)

English

inosine triphosphatase deficiency

inherited condition caused by mutation in the ITPA gene

inosine triphosphate pyrophosphohydrolase deficiency
INOSINE TRIPHOSPHATASE DEFICIENCY

In more languages

Statements

class of disease

0 references

genetic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

inborn disorder of purine metabolism

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000125877/MONDO_0013461

based on heuristic

inferred from an Open Targets association score over 0.7

277.2

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

NCI Thesaurus ID

C129974

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_319684

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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