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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 3
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Accession:DOID:0080759 term browser browse the term
Definition:A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: EHHADH-RELATED CONDITION;   FRTS3;   Fanconi syndrome 3
 primary_id: OMIM:615605


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Fanconi renotubular syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: EHHADH-related condition | ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 OMIM
ClinVar		 PMID:1627757 PMID:24401050 PMID:25741868 PMID:28492532 PMID:35738466 NCBI chr 3:182,228,520...182,319,339
Ensembl chr 3:190,704,695...190,796,075 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    syndrome 10220
      Fanconi syndrome 39
        Fanconi renotubular syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15697
    Developmental Disease 13612
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12656
        genetic disease 12305
          monogenic disease 10310
            autosomal genetic disease 9501
              autosomal dominant disease 6259
                Fanconi renotubular syndrome 3 1
paths to the root