inosine triphosphatase deficiency
inherited condition caused by mutation in the ITPA gene
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inosine triphosphatase deficiency
Summary
inosine triphosphatase deficiency is a class of disease[1].
Key Facts
- inosine triphosphatase deficiency's instance of is recorded as class of disease[2].
- inosine triphosphatase deficiency's subclass of is recorded as genetic disease[3].
- inosine triphosphatase deficiency's subclass of is recorded as inborn disorder of purine metabolism[4].
- inosine triphosphatase deficiency's MeSH descriptor ID is recorded as C564127[5].
- inosine triphosphatase deficiency's OMIM ID is recorded as 613850[6].
- inosine triphosphatase deficiency's Orphanet ID is recorded as 319684[7].
- inosine triphosphatase deficiency's ICD-9-CM is recorded as 277.2[8].
- inosine triphosphatase deficiency's NCI Thesaurus ID is recorded as C129974[9].
- inosine triphosphatase deficiency's genetic association is recorded as ITPA[10].
- inosine triphosphatase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_319684[11].
- inosine triphosphatase deficiency's UMLS CUI is recorded as C1840173[12].
- inosine triphosphatase deficiency's UMLS CUI is recorded as C0342800[13].
- inosine triphosphatase deficiency's Mondo ID is recorded as MONDO_0013461[14].
- inosine triphosphatase deficiency's UniProt disease ID is recorded as DI-01825[15].