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]. It draws 4 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]
Key Facts
- adenine phosphoribosyltransferase deficiency's instance of is recorded as rare disease[3].
- adenine phosphoribosyltransferase deficiency's instance of is recorded as class of disease[4].
- adenine phosphoribosyltransferase deficiency's subclass of is recorded as inborn errors of purine–pyrimidine metabolism[5].
- adenine phosphoribosyltransferase deficiency's subclass of is recorded as amino acid metabolic disorder[6].
- adenine phosphoribosyltransferase deficiency's subclass of is recorded as inborn disorder of purine metabolism[7].
- adenine phosphoribosyltransferase deficiency's subclass of is recorded as nephropathy secondary to a storage or other metabolic disease[8].
- adenine phosphoribosyltransferase deficiency's subclass of is recorded as disease[9].
- adenine phosphoribosyltransferase deficiency's MeSH descriptor ID is recorded as C538228[10].
- adenine phosphoribosyltransferase deficiency's OMIM ID is recorded as 614723[11].
- adenine phosphoribosyltransferase deficiency's ICD-9 ID is recorded as 277.2[12].
- adenine phosphoribosyltransferase deficiency's ICD-10 ID is recorded as E79[13].
- adenine phosphoribosyltransferase deficiency's DiseasesDB is recorded as 32632[14].
- adenine phosphoribosyltransferase deficiency's KEGG ID is recorded as H00195[15].
- adenine phosphoribosyltransferase deficiency's Disease Ontology ID is recorded as DOID:0060350[16].
- adenine phosphoribosyltransferase deficiency's Orphanet ID is recorded as 976[17].
- adenine phosphoribosyltransferase deficiency's NCI Thesaurus ID is recorded as C121564[18].
- adenine phosphoribosyltransferase deficiency's health specialty is recorded as endocrinology[19].
- adenine phosphoribosyltransferase deficiency's genetic association is recorded as APRT[20].
- adenine phosphoribosyltransferase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060350[21].
- adenine phosphoribosyltransferase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0060350[22].
- adenine phosphoribosyltransferase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_976[23].
- adenine phosphoribosyltransferase deficiency's UMLS CUI is recorded as C0268120[24].
- adenine phosphoribosyltransferase deficiency's UMLS CUI is recorded as C3665382[25].
- adenine phosphoribosyltransferase deficiency's ICD-10-CM is recorded as E79.8[26].
- adenine phosphoribosyltransferase deficiency's PatientsLikeMe condition ID is recorded as adenine-phosphoribosyltransferase-deficiency[27].
Why It Matters
adenine phosphoribosyltransferase deficiency draws 4 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]