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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:Fanconi renotubular syndrome 4
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Accession:DOID:0080760 term browser browse the term
Definition:A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: FRTS4;   FRTS4 with MOD;   FRTS4 with MODY;   Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young
 primary_id: OMIM:616026
For additional species annotation, visit the Alliance of Genome Resources.



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Fanconi renotubular syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212 PMID:22802087 PMID:24285859 PMID:25741868 PMID:25819479 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Fanconi syndrome 10
        Fanconi renotubular syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        acquired metabolic disease 2896
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              diabetes mellitus 1407
                type 2 diabetes mellitus 729
                  maturity-onset diabetes of the young 27
                    Fanconi renotubular syndrome 4 1
paths to the root