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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:xanthinuria
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Accession:DOID:0060236 term browser browse the term
Definition:A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO)
Synonyms:exact_synonym: XDH deficiency;   classic xanthinuria;   deficiency of xanthine oxidase;   hereditary xanthinuria;   xanthine dehydrogenase deficiency;   xanthine oxidase deficiency
 xref: OMIM:PS278300;   ORDO:3467


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xanthinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: XDH deficiency ClinVar NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: XDH deficiency | ClinVar Annotator: match by term: Xanthinuria ClinVar PMID:9153281 PMID:9536098 PMID:11379872 PMID:16199547 PMID:17368066 More... NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
xanthinuria type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xdh xanthine dehydrogenase ISO DNA:point mutation, deletion:exon:p.R228X, 2567delC (human)
CTD Direct Evidence: marker/mechanism		 CTD
OMIM
RGD		 PMID:9153281 RGD:1624377 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
xanthinuria type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mocos molybdenum cofactor sulfurase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xanthinuria type II
OMIM:603592		 CTD
OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11302742 PMID:14624414 PMID:16199547 PMID:17368066 More... NCBI chr18:15,931,659...15,977,415
Ensembl chr18:15,931,654...15,977,187 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Xanthinuria type II ClinVar PMID:18384427 PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Xanthine dehydrogenase and aldehyde oxidase combined deficiency of | ClinVar Annotator: match by term: Xanthinuria type II ClinVar PMID:9153281 PMID:9536098 PMID:10844591 PMID:16199547 PMID:17368066 More... NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          purine-pyrimidine metabolic disorder 204
            xanthinuria 3
              xanthinuria type I 1
              xanthinuria type II 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                xanthinuria 3
                  xanthinuria type I 1
                  xanthinuria type II 3
paths to the root