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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:7915931, PMID:8882882, PMID:9298830, PMID:9521589, PMID:10393170, PMID:11243733, PMID:19435978, PMID:25741868, PMID:28492532 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 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          urolithiasis 61
            adenine phosphoribosyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              adenine phosphoribosyltransferase deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.