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ONTOLOGY REPORT - ANNOTATIONS


Term:WAGR syndrome
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Accession:DOID:14515 term browser browse the term
Definition:A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Synonyms:exact_synonym: 11p Partial Monosomy Syndrome;   Chromosome 11p13 Deletion Syndrome;   WAGR;   WAGR Complex;   WAGR Complices;   WAGR Contiguous Gene Syndrome;   WAGR Syndromes;   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-MR Syndrome;   Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome
 primary_id: MESH:D017624;   RDO:0004613
 alt_id: OMIM:194072
 xref: GARD:5528;   NCI:C3718
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WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      chromosomal deletion syndrome 607
        WAGR syndrome 3
          Chromosome 11p Deletion Syndrome 0
          Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    WAGR syndrome 3
                      Chromosome 11p Deletion Syndrome 0
                      Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
paths to the root

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