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

has_obo_namespace

disease_ontology

id

DOID:0050739

imported from

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

in subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_MGI_slim

label

autosomal genetic disease

notation

DOID:0050739

prefLabel

autosomal genetic disease

textual definition

A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050177

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http://purl.obolibrary.org/obo/DOID_0050739 Human Disease Ontology 123 LOOM
http://purl.obolibrary.org/obo/DOID_0050739 Human Disease Ontology 123 SAME_URI