loading...| Preferred Name |
WAGR Syndrome |
| Synonyms |
Syndrome, WAGR |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D017624 |
| altLabel |
Syndrome, WAGR Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome WAGR Syndromes WAGR Contiguous Gene Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome WAGR Complices Contiguous Gene Syndrome, WAGR WAGR Complex 11p Partial Monosomy Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome Complex, WAGR |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0206115 |
| DC |
1 |
| 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. |
| DX |
19940101 |
| FX |
D016162 |
| HN |
1994 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
1994 |
| Mapped from | |
| MDA |
19930603 |
| MMR |
20210630 |
| MN |
C12.050.351.968.419.473.585.950 C12.900.820.535.585.950 C12.800.316.096.875 C16.131.260.940 C12.050.351.937.820.535.585.950 C16.320.180.940 C12.950.983.535.585.950 C10.597.606.360.969 C04.557.435.595.950 C04.700.900.950 C12.200.706.316.096.875 C16.131.939.316.096.875 C12.950.419.473.585.950 C16.320.700.900.950 C16.320.290.078.950 C16.131.384.079.950 C12.050.351.875.253.096.875 C12.200.777.419.473.585.950 C11.941.375.060.950 C11.250.060.950 C12.200.758.820.750.585.950 C11.270.060.950 C19.391.119.096.875 C04.588.945.947.535.585.950 |
| notation |
D017624 |
| prefLabel |
WAGR Syndrome |
| TERMUI |
T369692 T751289 T842694 T052815 T750432 T812094 T842693 T369694 T812093 T369695 T369693 |
| TH |
NLM (2000) NLM (1994) NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D058490 http://purl.bioontology.org/ontology/MESH/D009396 http://purl.bioontology.org/ontology/MESH/D008607 |