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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 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        inherited metabolic disorder 2234
          renal tubular transport disease 92
            Renal Aminoacidurias 12
              Histidinuria, Renal Tubular Defect 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        urinary system disease 2074
          kidney disease 1858
            renal tubular transport disease 92
              Renal Aminoacidurias 12
                Histidinuria, Renal Tubular Defect 0
paths to the root