Human Disease Ontology

Last uploaded: March 29, 2024
Preferred Name

autosomal dominant disease

Synonyms
Definitions

An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

ID

http://purl.obolibrary.org/obo/DOID_0050736

created_by

lschriml

creation_date

2012-07-24T12:51:47Z

definition

An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

has_obo_namespace

disease_ontology

id

DOID:0050736

label

autosomal dominant disease

notation

DOID:0050736

prefLabel

autosomal dominant disease

subClassOf

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

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

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