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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:adenine phosphoribosyltransferase deficiency
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Accession:DOID:0060350 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: 2,8-Dihydroxyadenine Urolithiasis;   2,8-Dihydroxyadeninuria;   APRT Deficiency;   APRTD;   DHA Crystalline Nephropathy;   Nephrolithiasis, DHA;   Urolithiasis, DHA
 primary_id: MESH:C538228
 alt_id: OMIM:614723
 xref: GARD:10666;   GARD:546;   NCI:C121564
For additional species annotation, visit the Alliance of Genome Resources.

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adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency OMIM
PMID:1353080 PMID:1673292 PMID:1781410 PMID:1985452 PMID:2135300 More... NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        urinary system disease 2383
          urolithiasis 63
            adenine phosphoribosyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                adenine phosphoribosyltransferase deficiency 2
paths to the root