A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. [ DOID:0050739 http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns http://ghr.nlm.nih.gov/glossary=autosomaldominant ]
Synonyms: autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease
Term information
- SCTID:1899006 (MONDO:equivalentTo)
- ICD9:758.5 (MONDO:relatedTo)
- DOID:0050739 (MONDO:equivalentTo)
- UMLS:C0265384 (MONDO:equivalentTo)
http://identifiers.org/snomedct/1899006
http://linkedlifedata.com/resource/umls/id/C0265384
http://purl.obolibrary.org/obo/DOID_0050739