Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

digenic disease

Definitions

A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.

ID

http://purl.obolibrary.org/obo/DOID_0080578

definition

A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.

has_obo_namespace

disease_ontology

id

DOID:0080578

label

digenic disease

notation

DOID:0080578

prefLabel

digenic disease

subClassOf

http://purl.obolibrary.org/obo/DOID_0080577

http://purl.obolibrary.org/obo/DOID_4

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