PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Denys-Drash Syndrome
Synonyms
Definitions

An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).

ID

http://www.phoc.org.cn/pmo/class/PMO_00038158

Database_Cross_Reference

RCD:X30I1

MTH:NOCODE

OMIM:607102

MDR:10070179

NDFRT:N0000011086

MEDCIN:351160

OMIM:194080

SNOMEDCT_US:236385009

CHV:0000053528

NCI_NICHD:C84668

DO:DOID:3764

NCI_NCI-GLOSS:CDR0000440105

NCI_NCI-GLOSS:CDR0000440104

NCI:C84668

MSH:D030321

RCDAE:X30I1

Definition

An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).

label

Denys-Drash Syndrome

MCID

MC00337846

PMOID

PMO:00038158

prefixIRI

pmo:PMO_00038158

prefLabel

Denys-Drash Syndrome

Synonym

DRASH SYNDROME

WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM

Drash syndrome

Wilms' tumor + nephrotic syndrome + pseudohermaphroditism

Nephropathy, Wilms Tumor, and Genital Anomalies

Nephrotic syndrome with pseudohermaphroditism

DENYS-DRASH SYNDROME

NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES

Denys-Drash Syndrome [Disease/Finding]

Wilms' tumor and nephrotic syndrome with pseudohermaphroditism

denys-drash syndrome

Syndrome, Denys-Drash

Nephrotic Syndrome Type 4

nephrotic syndrome congenital type 4 (diagnosis)

Wilms' tumour and nephrotic syndrome with pseudohermaphroditism

Wilms' tumour + nephrotic syndrome + pseudohermaphroditism

Wilms Tumor and Pseudohermaphroditism

Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor

Wilms tum + NS + pseudohermaph

Drash syndrome (disorder)

Nephr synd +pseudohermaphrodit

DDS

Drash Syndrome

denys drash syndrome

nephrotic syndrome congenital type 4

Denys Drash Syndrome

Syndrome, Drash

Denys-Drash syndrome

Tree Number

T9.24.4.6.2.4

T9.12.2.10.3.1.1.2

T9.24.1.3.1.1.2

T9.19.2.5.6.2.4

T9.8.4.36.2.2

T9.12.1.12.1.2

T9.24.2.3.12.1.2

T9.8.3.11.6.2.4

T9.19.2.1.3.1.1.2

T9.12.7.2.2

T9.9.9.5.2.4

T9.19.2.2.3.12.1.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00014295

http://www.phoc.org.cn/pmo/class/PMO_00037255

http://www.phoc.org.cn/pmo/class/PMO_00038157

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3764 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.706.316.096.562 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.635.220 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D030321 MDM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#53528 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0008682 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008682 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008682 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008682 KTAO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0950121 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.758.820.750.585.220 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.119.096.562 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3764 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10070179 MEDDRA LOOM
http://purl.jp/bio/4/id/200906063735910173 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D030321 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_220 ORDO LOOM
http://identifiers.org/omim/194080 REXO LOOM
http://identifiers.org/omim/194080 GEXO LOOM
http://identifiers.org/omim/194080 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.473.585.220 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D030321 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/194080 OMIM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3552 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.435.595.220 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84668 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84668 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.875.253.096.562 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.473.585.220 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.642.220 RH-MESH LOOM
http://purl.obolibrary.org/obo/GSSO_006968 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.945.947.535.585.220 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.939.316.096.562 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200116 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_194080 CCO LOOM
http://purl.obolibrary.org/obo/OMIT_0021779 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.937.820.535.585.220 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3764 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3764 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3764 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3764 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3764 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3764 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3764 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Denys-Drash_Syndrome CSEO LOOM