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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 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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Frasier syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Urogenital Diseases 4356
        urinary system disease 2142
          kidney disease 1921
            kidney failure 499
              chronic kidney disease 240
                end stage renal disease 177
                  Frasier syndrome 1
paths to the root