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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:Histidinuria, Renal Tubular Defect
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Accession:DOID:9002706 term browser browse the term
Synonyms:exact_synonym: Histidinuria due to a Renal Tubular Defect;   Renal histidinuria
 primary_id: MESH:C538321
 alt_id: OMIM:235830
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12130
    Nutritional and Metabolic Diseases 3461
      disease of metabolism 3461
        inherited metabolic disorder 1915
          renal tubular transport disease 81
            Renal Aminoacidurias 12
              Histidinuria, Renal Tubular Defect 0
Path 2
Term Annotations click to browse term
  disease 12130
    disease of anatomical entity 11691
      Urogenital Diseases 3529
        urinary system disease 1575
          kidney disease 1383
            renal tubular transport disease 81
              Renal Aminoacidurias 12
                Histidinuria, Renal Tubular Defect 0
paths to the root