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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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: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. (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;   RDO:0004179
 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 OMIM:614723
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency
ClinVar
OMIM
PMID:1353080 PMID:1673292 PMID:1985452 PMID:2135300 PMID:2227951 PMID:2502918 PMID:3343350 PMID:3554238 PMID:3680503 PMID:7685481 PMID:7758207 PMID:7915931 PMID:8882882 PMID:9298830 PMID:9521589 PMID:10393170 PMID:11243733 PMID:15571218 PMID:17126311 PMID:19435978 PMID:20150536 PMID:21635362 PMID:22212387 PMID:22988602 PMID:23430916 PMID:24459232 PMID:24940675 PMID:24986359 PMID:25741868 PMID:25983915 PMID:25984046 PMID:26724837 PMID:27994857 PMID:28492532 PMID:28566603 PMID:30106368 PMID:30355577 PMID:30389108 PMID:30890413 PMID:30993240 PMID:31201003 PMID:31440706 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Urogenital Diseases 4203
        urinary system disease 2107
          urolithiasis 63
            adenine phosphoribosyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            amino acid metabolic disorder 448
              adenine phosphoribosyltransferase deficiency 2
paths to the root