Human Disease Ontology

Last uploaded: July 1, 2026
Id http://purl.obolibrary.org/obo/DOID_0050739
http://purl.obolibrary.org/obo/DOID_0050739
Preferred Name

autosomal genetic disease

Definitions
A monogenic disease that has_material_basis_in a mutation on one of the non-sex chromosomes.
Type http://www.w3.org/2002/07/owl#Class
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