OntologyTerm
autosomal genetic disease

released
   October 1st, 2019 at 12:15am

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
preferred_name 
autosomal genetic disease
source_ontologies 
synonyms 
  1. autosomal inherited disorder
  2. autosomal inherited disease
  3. autosomal hereditary disorder
term_id 
MONDO:0000429
term_name 
autosomal genetic disease
term_url 
http://purl.obolibrary.org/obo/MONDO_0000429