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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:Frasier syndrome
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Accession:DOID:0050438 term browser browse the term
Definition:A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO)
Synonyms:primary_id: MESH:D052159
 alt_id: OMIM:136680
 xref: GARD:2375;   NCI:C122805



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Frasier syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frasier syndrome
OMIM
CTD
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      Frasier syndrome 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Urogenital Diseases 5249
        urinary system disease 2839
          kidney disease 2591
            kidney failure 568
              chronic kidney disease 260
                end stage renal disease 182
                  Frasier syndrome 1
paths to the root