Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

digenic disease

Synonyms
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_4

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

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