Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

Preferred Name	Gout, HPRT-Related
Synonyms	Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
ID	http://purl.bioontology.org/ontology/MESH/C562583
altLabel	Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial Kelley-Seegmiller Syndrome HPRT Deficiency, Partial HPRT1 Deficiency, Partial
cui	C0268117
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D006073 D007041/Q000172
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D006073 http://purl.bioontology.org/ontology/MESH/D007041
MDA	20121105
MeSH Frequency	7
MMR	20131106
notation	C562583
prefLabel	Gout, HPRT-Related
SC	3
Scope Statement	mutation in HPRT; complete deficiency = Lesch-Nyhan Syndrome
TERMUI	T800986 T800985 T826477 T826475 T826476
TH	OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/300323	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
	http://purl.bioontology.org/ontology/OMIM/308000	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI