Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Denys-Drash syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome 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://purl.obolibrary.org/obo/DOID_3764

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C84668

UMLS_CUI:C0950121

SNOMEDCT_US_2022_09_01:236385009

OMIM:194080

GARD:5576

MESH:D030321

definition

A syndrome 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).

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:3764

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

Denys-Drash syndrome

notation

DOID:3764

prefLabel

Denys-Drash syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0050736

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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
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84668 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM