released
October 1st, 2019 at 12:15am
Details
Details
definition
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. (EFO)
namespace
http://purl.obolibrary.org/obo
parents
preferred_name
autosomal genetic disease
source_ontologies
synonyms
- autosomal inherited disorder
- autosomal inherited disease
- autosomal hereditary disorder
term_id
MONDO:0000429
term_name
autosomal genetic disease
term_url
http://purl.obolibrary.org/obo/MONDO_0000429