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

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:1899006 (MONDO:equivalentTo)
  • ICD9:758.5 (MONDO:relatedTo)
  • DOID:0050739 (MONDO:equivalentTo)
  • MEDGEN:539205 (MONDO:equivalentTo)
  • UMLS:C0265384 (MONDO:equivalentTo)
Subsets

otar

exactMatch

http://identifiers.org/snomedct/1899006

http://identifiers.org/medgen/539205

http://purl.obolibrary.org/obo/DOID_0050739

http://linkedlifedata.com/resource/umls/id/C0265384

id

MONDO:0000429

Term relations

Subclass of: