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Denys-Drash Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D030321

A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

Term info

Label

Denys-Drash Syndrome

Synonyms
  • Denys Drash Syndrome
  • Denys-Drash-Syndrom (DE)
  • Drash Syndrome
  • Nephropathy, Wilms Tumor, and Genital Anomalies
  • Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor
  • Syndrome, Denys-Drash
  • Syndrome, Drash
  • Wilms Tumor and Pseudohermaphroditism
  • Wilms-Tumor-Pseudohermaphroditismus-Syndrom (DE)
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

DC

1

DX

20020101

FX

D016162

HN

2002

MDA

20010803

MMR

20180629

MN

C16.131.939.316.096.562, C13.351.875.253.096.562, C04.557.435.595.220, C13.351.937.820.535.585.220, C04.588.945.947.535.585.220, C12.777.419.473.585.220, C04.700.900.220, C13.351.968.419.473.585.220, C16.320.700.900.220, C12.758.820.750.585.220, C19.391.119.096.562, C12.706.316.096.562

PM

2002

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D016162

SIB

http://purl.bioontology.org/ontology/MESH/D006061, http://purl.bioontology.org/ontology/MESH/D017624, http://purl.bioontology.org/ontology/MESH/D017436, http://purl.bioontology.org/ontology/MESH/D052159, http://purl.bioontology.org/ontology/MESH/D013734

TERMUI

T753231, T781502, T752456, T433388, T781503

TH

ORD (2010), OMIM (2013), NLM (2010), NLM (2002), NLM (2012)

cui

C0950121

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Term relations