Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


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
go back to main search page
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

show annotations for term's descendants           Sort by:
Frasier syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Frasier syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Frasier syndrome OMIM
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Frasier syndrome 2
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Urogenital Diseases 4934
        urinary system disease 2545
          kidney disease 2304
            kidney failure 550
              chronic kidney disease 252
                end stage renal disease 180
                  Frasier syndrome 2
paths to the root