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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 5
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Accession:DOID:0080761 term browser browse the term
Definition:A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: Acadian-variant Fanconi syndrome;   FRTS5
 primary_id: OMIM:618913


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Fanconi renotubular syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:27466185 PMID:28492532 NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Fanconi syndrome 40
        Fanconi renotubular syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                Fanconi renotubular syndrome 5 1
paths to the root