Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	autosomal recessive disease
Definitions	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
ID	http://purl.obolibrary.org/obo/DOID_0050737
created_by	lschriml
creation_date	2012-07-24T12:51:47Z
definition	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
has_obo_namespace	disease_ontology
id	DOID:0050737
label	autosomal recessive disease
notation	DOID:0050737
prefLabel	autosomal recessive disease
subClassOf	http://purl.obolibrary.org/obo/DOID_4 http://purl.obolibrary.org/obo/DOID_0050739

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