Terminology Service for NFDI4Health
monogenic disease
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http://purl.obolibrary.org/obo/DOID_0050177
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).
Term info
Label
monogenic disease
has obo namespace
disease_ontology
id
DOID:0050177
imported from
http://purl.obolibrary.org/obo/doid.owl