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Metadata
DOID DOID:0060350
Name adenine phosphoribosyltransferase deficiency
Definition An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern.
http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency, https://www.ncbi.nlm.nih.gov/pubmed/20150536
Xrefs

GARD:10666

GARD:546

MESH:C538228

NCI:C121564

OMIM:614723

SNOMEDCT_US_2018_03_01:11852004

UMLS_CUI:C0268120

UMLS_CUI:C3665382

Subsets

NCIthesaurus

Synonyms

2,8-dihydroxyadenine urolithiasis [EXACT]

APRT deficiency [EXACT]

Relationships

is_a amino acid metabolic disorder

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