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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 type I
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Accession:DOID:0070452 term browser browse the term
Definition:A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: XAN1
 primary_id: MESH:C562584
 alt_id: DOID:9008241;   OMIM:278300
 xref: GARD:5621;   ORDO:93601


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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		 OMIM
CTD
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Nutritional and Metabolic Diseases 8266
      disease of metabolism 8266
        inherited metabolic disorder 6279
          purine-pyrimidine metabolic disorder 203
            xanthinuria 3
              xanthinuria type I 1
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          monogenic disease 10428
            autosomal genetic disease 9587
              autosomal recessive disease 6667
                xanthinuria 3
                  xanthinuria type I 1
paths to the root