Ontology of Drug Adverse Events

Last uploaded: January 12, 2019
Preferred Name

monogenic disease
Synonyms
Definitions

A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).

ID

http://purl.obolibrary.org/obo/DOID_0050177

definition

A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).

has_obo_namespace

disease_ontology

id

DOID:0050177

imported from

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

label

monogenic disease

notation

DOID:0050177

prefLabel

monogenic disease

subClassOf

http://purl.obolibrary.org/obo/DOID_630

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