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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 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
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, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072		 ClinVar
CTD		 PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072		 CTD
ClinVar		 PMID:15118671 RGD:1331525 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		JBrowse link
Chromosome 11p Deletion 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: 11p deletion syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    syndrome 7073
      chromosomal deletion syndrome 881
        WAGR syndrome 3
          Chromosome 11p Deletion Syndrome 2
          Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  intellectual disability 2193
                    WAGR syndrome 3
                      Chromosome 11p Deletion Syndrome 2
                      Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 0
paths to the root