Preferred Name

Denys-Drash Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84668

ALT_DEFINITION

A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components.

A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer.

code

C84668

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186341

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467

Contributing_Source

NICHD

GDC

Cellosaurus

PCDC

DEFINITION

A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders.

FULL_SYN

Denys-Drash Syndrome

Nephrotic Syndrome Type 4

Denys-Drash syndrome

Denys Drash Syndrome

DDS

Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16457

label

Denys-Drash Syndrome

Maps_To

Denys-Drash Syndrome

Preferred_Name

Denys-Drash Syndrome

prefixIRI

Thesaurus:C84668

prefLabel

Denys-Drash Syndrome

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18262

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0950121

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35561

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3764 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_3764 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D030321 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/194080 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0008682 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008682 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_220 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM