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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: MIM:616026


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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: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar		 PMID:10227563 PMID:12627330 PMID:15123688 PMID:15826954 PMID:17563455 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Fanconi syndrome 13
        Fanconi renotubular syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          inherited metabolic disorder 6602
            carbohydrate metabolic disorder 3407
              glucose metabolism disease 2155
                diabetes mellitus 1660
                  maturity-onset diabetes of the young 106
                    Fanconi renotubular syndrome 4 2
paths to the root