About: inosine triphosphatase deficiency

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

inherited condition caused by mutation in the ITPA gene

Attributes	Values
rdf:type	Item
description	inherited condition caused by mutation in the ITPA gene (en)
exact match	wds:Q54361681-E2B99EBA-3F45-472C-AD58-B0851582CCF0
exact match	http://www.orpha.net/ORDO/Orphanet_319684
Mondo ID	wds:Q54361681-7D0995FE-C54D-4518-AD5F-A69EEC9AB16B
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013461
Mondo ID	MONDO_0013461
rdfs:label	déficit en inosine triphosphate pyrophosphatase (fr) inosine triphosphatase deficiency (en)
skos:prefLabel	déficit en inosine triphosphate pyrophosphatase (fr) inosine triphosphatase deficiency (en)
name	déficit en inosine triphosphate pyrophosphatase (fr) inosine triphosphatase deficiency (en)
instance of	wds:Q54361681-3D08436D-F867-493E-9A7D-29BBA4D369A3
instance of	class of disease
subclass of	wds:Q54361681-64194d12-4ffa-9491-e45c-69795661a901 wds:Q54361681-AB1ABC94-0665-4A1D-A57F-7CA0C6EAEABB
subclass of	genetic disease inborn disorder of purine metabolism
UniProt disease ID	wds:Q54361681-38498d36-4d8c-33c3-2873-9ef972bb1cc3
Orphanet ID	wds:Q54361681-6ED0604C-3ED8-41E6-8F5E-C61D69976977
ICD-9-CM	wds:Q54361681-F94D3361-7F7C-46F1-8FBD-306C32EF393D
genetic association	wds:Q54361681-39D55502-CC17-491A-B262-66B457DDAA47
OMIM ID	wds:Q54361681-43a2f0f6-49cf-5c38-1b17-1fca0aa9753c
UniProt disease ID	DI-01825
Orphanet ID	319684
ICD-9-CM	277.2
genetic association	ITPA
OMIM ID	613850
skos:altLabel	INOSINE TRIPHOSPHATASE DEFICIENCY (en) inosine triphosphate pyrophosphohydrolase deficiency (en)
NCI Thesaurus ID	wds:Q54361681-5e021060-4d83-2208-ec89-6b54b69d7f46
UMLS CUI	wds:Q54361681-095579F9-A058-411D-B720-C6870A3014EE wds:Q54361681-DD6BB84F-E9CA-4C5F-9757-B195E54BFD0C
MeSH descriptor ID	wds:Q54361681-5415A9F2-1614-40CC-8C1E-D2CB3EC75B24
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C564127
NCI Thesaurus ID	C129974
UMLS CUI	C0342800 C1840173
MeSH descriptor ID	C564127
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q54361681
is main subject of	DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency
is main subject of	wds:Q34159410-089DD81D-4346-45F7-9C21-E6C187A6844D wds:Q34586219-517CE36B-2C6B-4A1C-8C57-C691AED8FA04 wds:Q44970912-93E1E82A-FC74-4D1D-AABE-BCB7001A3B1D wds:Q40155391-6ED0C18D-CED4-4E52-AF79-2B9CADAD2536 wds:Q68473085-14184CAE-F337-4D98-AEFD-9D623D51A422 wds:Q84406188-9ECA2BE1-8F1A-408D-A86A-7D812809C356 wds:Q34425213-D484BA7A-6B2D-41D3-87AD-E038F15682B4
is genetic association of	ITPA
is genetic association of	wds:Q18028065-8BA8A06F-D837-41AB-B3C1-76C17D6D4EDD
is established from medical condition of	GM01617 GM01619
is established from medical condition of	wds:Q54836950-A71711A6-715D-44C1-A657-49D141F2F095 wds:Q54836951-A7F1292D-C0AB-4963-98E6-979E0907F481

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