Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	autosomal genetic disease
Definitions	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
ID	http://purl.obolibrary.org/obo/DOID_0050739
created_by	lschriml
creation_date	2012-07-24T04:45:53Z
definition	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
has_obo_namespace	disease_ontology
id	DOID:0050739
in_subset	http://purl.obolibrary.org/obo/doid#DO_MGI_slim
label	autosomal genetic disease
notation	DOID:0050739
prefLabel	autosomal genetic disease
subClassOf	http://purl.obolibrary.org/obo/DOID_4 http://purl.obolibrary.org/obo/DOID_0050177

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0050739	International Classification of Diseases Ontology	LOOM
	http://purl.obolibrary.org/obo/DOID_0050739	International Classification of Diseases Ontology	SAME_URI