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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: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

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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 phosphoribosyltransferase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency OMIM
ClinVar		 PMID:1353080 PMID:1673292 PMID:1781410 PMID:1985452 PMID:2135300 More... NCBI chrNW_004936641:913,674...916,312
Ensembl chrNW_004936641:913,475...918,748 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936641:916,695...925,411
Ensembl chrNW_004936641:917,435...920,981 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936641:893,976...913,138
Ensembl chrNW_004936641:894,869...912,533 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        urinary system disease 2276
          urolithiasis 60
            adenine phosphoribosyltransferase deficiency 3
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                adenine phosphoribosyltransferase deficiency 3
paths to the root