loading...| Preferred Name |
DENYS-DRASH SYNDROME |
|
| Synonyms |
NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/194080 |
|
| altLabel |
NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES DDS DRASH SYNDROME WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM |
|
| cui |
C0950121 |
|
| Gene Locus |
11p13 |
|
| Gene Symbol |
WT1 NPHS4 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006962 http://purl.bioontology.org/ontology/OMIM/MTHU014908 http://purl.bioontology.org/ontology/OMIM/MTHU012104 http://purl.bioontology.org/ontology/OMIM/MTHU014912 http://purl.bioontology.org/ontology/OMIM/MTHU036995 http://purl.bioontology.org/ontology/OMIM/MTHU014913 http://purl.bioontology.org/ontology/OMIM/MTHU014907 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU014910 http://purl.bioontology.org/ontology/OMIM/MTHU005880 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
194080 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DENYS-DRASH SYNDROME |
|
| Scope Statement |
Phenotypic overlap with WAGR syndrome (194072), Frasier syndrome (136680) [MISCELLANEOUS] Caused by mutation in the WT1 transcription factor gene (WT1, 607102.0003) [MOLECULAR BASIS] Most cases are sporadic [MISCELLANEOUS] Death usually due to renal failure by average age 3 [MISCELLANEOUS] |
|
| tui |
T047 |