About: HRPT-related hyperuricemia

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked recessive disease hyperuricemia inherited metabolic disorder nodeID://b50946133
label	HRPT-related hyperuricemia
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112127
database_cross_reference	OMIM:300323 ORDO:79233
has_exact_synonym	hypoxanthine guanine phosphoribosyltransferase deficiency, grade I HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase partial deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946134

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