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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 1
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Accession:DOID:0080757 term browser browse the term
Definition:A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: FRTS1
 broad_synonym: GATM-RELATED CONDITION
 primary_id: OMIM:134600


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Fanconi renotubular syndrome 1 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 1 ClinVar PMID:25741868 NCBI chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188 		JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 | ClinVar Annotator: match by term: GATM-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29654216 PMID:35738466 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Fanconi syndrome 40
        Fanconi renotubular syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                Fanconi renotubular syndrome 1 2
paths to the root