Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

monogenic disease
Synonyms
Definitions

A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.

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, semi-dominant, or recessive.

has_obo_namespace

disease_ontology

id

DOID:0050177

in_subset

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

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

label

monogenic disease

notation

DOID:0050177

prefLabel

monogenic disease

subClassOf

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

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

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