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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: FRTS3;   Fanconi syndrome 3
 primary_id: OMIM:615605
For additional species annotation, visit the Alliance of Genome Resources.



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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: Fanconi renotubular syndrome 3 OMIM
ClinVar
PMID:1627757 PMID:24401050 NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188
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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 3 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                Fanconi renotubular syndrome 3 1
paths to the root