Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Beckwith-Wiedemann syndrome

Definitions

A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_5572

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ORDO:116

SNOMEDCT_US_2022_09_01:81780002

OMIM:130650

ICD10CM:Q87.3

MESH:D001506

UMLS_CUI:C0004903

GARD:3343

NCI:C34415

definition

A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.

has exact match

MESH:D001506

has_obo_namespace

disease_ontology

id

DOID:5572

in_subset

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

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

label

Beckwith-Wiedemann syndrome

notation

DOID:5572

prefLabel

Beckwith-Wiedemann syndrome

subClassOf

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

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