autosomal genetic disease
http://purl.obolibrary.org/obo/MONDO_0000429
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. [ http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns DOID:0050739 http://ghr.nlm.nih.gov/glossary=autosomaldominant ]
Term info
- DOID:0050739 (MONDO:equivalentTo)
- UMLS:C0265384 (MONDO:equivalentTo)
- SCTID:1899006 (MONDO:equivalentTo)
- ICD9:758.5 (MONDO:relatedTo)
A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
http://identifiers.org/snomedct/1899006, http://linkedlifedata.com/resource/umls/id/C0265384, http://purl.obolibrary.org/obo/DOID_0050739
autosomal inherited disorder, autosomal hereditary disorder, autosomal inherited disease
MONDO:0000429