BioAssay Ontology / 生物活性分析本体

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

SNOMEDCT_US_2020_03_01:236385009

NCI:C84668

UMLS_CUI:C0950121

OMIM:194080

GARD:5576

MESH:D030321

id

DOID:3764

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Denys-Drash syndrome

notation

DOID:3764

prefLabel

Denys-Drash syndrome

textual 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).

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

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

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

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