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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:WAGR syndrome
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Accession:DOID:14515 term browser browse the term
Definition:A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. (DO)
Synonyms:exact_synonym: 11p partial monosomy syndrome;   Chromosome 11p13 Deletion Syndrome;   WAGR;   WAGR Complex;   WAGR Contiguous Gene Syndrome;   WAGR Syndromes;   WAGR complices;   Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome;   Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome;   Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome;   Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome;   Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual disability syndrome;   Wilms tumor-aniridia-genitourinary anomalies-MR syndrome;   Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome
 xref: GARD:5528;   MESH:D017624;   MIM:194072;   MONDO:0008681;   NCI:C3718
For additional species annotation, visit the Alliance of Genome Resources.



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WAGR syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD
ClinVar
PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... RGD:1331525 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 19076
    disease of cellular proliferation 7793
      Hereditary Neoplastic Syndromes 1349
        WAGR syndrome 3
          Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            eye disease 3549
              uveal disease 248
                iris disease 54
                  aniridia 24
                    WAGR syndrome 3
                      Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
paths to the root