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Gout, HPRT-Related MeSH Supplementary Concept Data 2023

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Concepts

MeSH Supplementary: Gout, HPRT-Related
Unique ID: C562583
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C562583
Entry Term(s): HPRT Deficiency, Partial; HPRT1 Deficiency, Partial; Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial; Kelley-Seegmiller Syndrome
Registry Number: 0
Heading Mapped to: *Gout; Hypoxanthine Phosphoribosyltransferase / *deficiency
Frequency: 7
Note: mutation in HPRT; complete deficiency = Lesch-Nyhan Syndrome
Date of Entry: 2012/11/05
Revision Date: 2013/11/06

Gout, HPRT-Related Preferred

Concept UI: M0562883
Registry Number: 0
Terms: Gout, HPRT-Related Preferred Term
Term UI T826475
Date07/19/2012
LexicalTag NON
ThesaurusID OMIM (2013); Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Term UI T800986
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); HPRT1 Deficiency, Partial
Term UI T826477
Date07/19/2012
LexicalTag NON
ThesaurusID OMIM (2013); HPRT Deficiency, Partial
Term UI T826476
Date07/19/2012
LexicalTag NON
ThesaurusID OMIM (2013); Kelley-Seegmiller Syndrome
Term UI T800985
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013)

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