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RGD uses the Human Disease Ontology (DO, 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 characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Synonyms:primary_id: MESH:D052159
 alt_id: OMIM:136680
 xref: GARD:2375;   NCI:C122805
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:136680
ClinVar Annotator: match by term: Frasier syndrome
PMID:1302008, PMID:1658787, PMID:7795587, PMID:8388765, PMID:9108089, PMID:9398852, PMID:9499425, PMID:9529364, PMID:10094551, PMID:10571943, PMID:10762296, PMID:12050205, PMID:12471221, PMID:15150775, PMID:19484379, PMID:20442690, PMID:21508141, PMID:21851196, PMID:23117548, PMID:23295293, PMID:23515051, PMID:24033266, PMID:24161391, PMID:24856380, PMID:25741868, PMID:25818337, PMID:27719739, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Frasier syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Urogenital Diseases 4157
        urinary system disease 2075
          kidney disease 1863
            kidney failure 493
              chronic kidney disease 244
                end stage renal disease 181
                  Frasier syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.