Mendelian diseaseGo to external page http://purl.obolibrary.org/obo/MONDO_0003847
A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. [ MONDO:cjm ]
- ICD9:799.89 (i2s)
- NCIT:C3101 (MONDO:equivalentTo)
- SCTID:32895009 (MONDO:equivalentTo)
- EFO:0000508 (MONDO:equivalentTo)
- MESH:D030342 (MONDO:equivalentTo)
- UMLS:C0019247 (NCIT:C3101)
- DOID:630 (MONDO:equivalentTo)
Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish.
A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.
inherited genetic disease
hereditary disease or disorder