Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

autosomal recessive disease

Synonyms
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

has_obo_namespace

disease_ontology

id

DOID:0050737

label

autosomal recessive disease

notation

DOID:0050737

prefLabel

autosomal recessive disease

textual 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.

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050739

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