About: adenine phosphoribosyltransferase deficiency

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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	autosomal recessive disease purine-pyrimidine metabolic disorder nodeID://b50938688
label	adenine phosphoribosyltransferase deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060350
created_by	elvira
creation_date	2015-07-02T16:06:22Z
database_cross_reference	GARD:10666 GARD:546 MESH:C538228 NCI:C121564 OMIM:614723 SNOMEDCT_US_2021_09_01:11852004 UMLS_CUI:C0268120 UMLS_CUI:C3665382
has_exact_synonym	2,8-dihydroxyadenine urolithiasis (en) APRT deficiency (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938689

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