FNS-Harmony

Last uploaded: November 2, 2023
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

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

autosomal recessive disease

prefixIRI

DOID:0050737

prefLabel

autosomal recessive disease

subClassOf

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

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