adenine phosphoribosyltransferase deficiency
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
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adenine phosphoribosyltransferase deficiency
Summary
adenine phosphoribosyltransferase deficiency is a rare disease[1].
Key Facts
- adenine phosphoribosyltransferase deficiency's instance of is recorded as rare disease[2].
- adenine phosphoribosyltransferase deficiency's instance of is recorded as class of disease[3].
- adenine phosphoribosyltransferase deficiency is a type of inborn errors of purine–pyrimidine metabolism[4].
- adenine phosphoribosyltransferase deficiency is a type of amino acid metabolic disorder[5].
- adenine phosphoribosyltransferase deficiency is a type of inborn disorder of purine metabolism[6].
- adenine phosphoribosyltransferase deficiency is a type of nephropathy secondary to a storage or other metabolic disease[7].
- adenine phosphoribosyltransferase deficiency is a type of disease[8].
- adenine phosphoribosyltransferase deficiency's NCI Thesaurus ID is recorded as C121564[9].
- adenine phosphoribosyltransferase deficiency's health specialty is recorded as endocrinology[10].
- adenine phosphoribosyltransferase deficiency's genetic association is recorded as APRT[11].
- adenine phosphoribosyltransferase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060350[12].
- adenine phosphoribosyltransferase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0060350[13].
- adenine phosphoribosyltransferase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_976[14].
- adenine phosphoribosyltransferase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].