Terminology Service for NFDI4Health
autosomal genetic disease
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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/glossary=autosomaldominant http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns ]
Term info
Label
autosomal genetic disease
Synonyms
- autosomal hereditary disorder
- autosomal inherited disease
- autosomal inherited disorder
exactMatch
http://identifiers.org/snomedct/1899006, http://linkedlifedata.com/resource/umls/id/C0265384, http://purl.obolibrary.org/obo/DOID_0050739
id
MONDO:0000429