Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

monogenic disease

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_630

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

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http://purl.obolibrary.org/obo/DOID_0050177 International Classification of Diseases Ontology LOOM
http://purl.obolibrary.org/obo/DOID_0050177 International Classification of Diseases Ontology SAME_URI
http://purl.obolibrary.org/obo/DOID_0050177 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) SAME_URI
http://purl.obolibrary.org/obo/DOID_0050177 Cell Line Ontology (Chinese Translation) SAME_URI