loading...| Preferred Name |
DENYS-DRASH SYNDROME |
| Synonyms |
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM |
| ID |
http://purl.bioontology.org/ontology/OMIM/194080 |
| altLabel |
WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES DDS DRASH SYNDROME |
| cui |
C0950121 |
| Gene Locus |
11p13 |
| Gene Symbol |
NPHS4 WT1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU014908 http://purl.bioontology.org/ontology/OMIM/MTHU012104 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU014912 http://purl.bioontology.org/ontology/OMIM/MTHU014910 http://purl.bioontology.org/ontology/OMIM/MTHU001436 http://purl.bioontology.org/ontology/OMIM/MTHU036995 http://purl.bioontology.org/ontology/OMIM/MTHU005880 http://purl.bioontology.org/ontology/OMIM/MTHU014913 http://purl.bioontology.org/ontology/OMIM/MTHU014909 http://purl.bioontology.org/ontology/OMIM/MTHU014907 http://purl.bioontology.org/ontology/OMIM/MTHU002068 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
194080 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
DENYS-DRASH SYNDROME |
| Scope Statement |
Most cases are sporadic [MISCELLANEOUS] Phenotypic overlap with WAGR syndrome (194072), Frasier syndrome (136680) [MISCELLANEOUS] Death usually due to renal failure by average age 3 [MISCELLANEOUS] Caused by mutation in the WT1 transcription factor gene (WT1, 607102.0003) [MOLECULAR BASIS] |
| tui |
T047 |