Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Denys-Drash Syndrome
Synonyms	Drash Syndrome
Definitions	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.
ID	http://purl.bioontology.org/ontology/MESH/D030321
altLabel	Drash Syndrome Nephropathy, Wilms Tumor, and Genital Anomalies Syndrome, Drash Syndrome, Denys-Drash Denys Drash Syndrome Wilms Tumor and Pseudohermaphroditism Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor
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	C0950121
DC	1
definition	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.
DX	20020101
FX	D016162
HN	2002
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D016162
Machine permutation	2002
MDA	20010803
MMR	20210630
MN	C12.200.706.316.096.562 C16.320.700.900.220 C04.557.435.595.220 C12.950.419.473.585.220 C12.200.777.419.473.585.220 C12.200.758.820.750.585.220 C04.588.945.947.535.585.220 C19.391.119.096.562 C16.131.939.316.096.562 C12.800.316.096.562 C12.050.351.968.419.473.585.220 C12.950.983.535.585.220 C12.050.351.937.820.535.585.220 C12.900.820.535.585.220 C04.700.900.220 C12.050.351.875.253.096.562
notation	D030321
prefLabel	Denys-Drash Syndrome
TERMUI	T781503 T781502 T753231 T752456 T433388
TH	OMIM (2013) NLM (2002) NLM (2012) NLM (2010) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D058490 http://purl.bioontology.org/ontology/MESH/D009396

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10070179	MDRGER	CUI
http://purl.bioontology.org/ontology/SCTSPA/236385009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/236385009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/607102	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10070179	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X30I1	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D030321	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/194080	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10070179	MDRFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000011086	NDFRT	CUI
http://purl.obolibrary.org/obo/MONDO_0008682	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_3764	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_3764	DOID	LOOM
http://nanbyodata.jp/ontology/NANDO_2200116	NANDO	LOOM
http://purl.obolibrary.org/obo/DOID_3764	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0008682	MONDO	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	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://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://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	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_3764	HHEAR	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
http://www.phoc.org.cn/pmo/class/PMO_00038158	PMAPP-PMO	LOOM