A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. [ https://orcid.org/0000-0002-6601-2165 ]
Synonyms: molecular disease hereditary disease hereditary diseases inherited disease inherited genetic disease hereditary disease or disorder
Term information
- SCTID:32895009 (MONDO:equivalentTo)
- DOID:630 (MONDO:equivalentTo)
- MESH:D030342 (MONDO:equivalentTo)
- UMLS:C0019247 (MONDO:equivalentTo)
- MEDGEN:5527 (MONDO:equivalentTo)
- EFO:0000508 (MONDO:equivalentTo)
- NCIT:C3101 (MONDO:equivalentTo)
- ICD9:799.89 (MONDO:relatedTo)
matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, matrix_llm__tag_existing_treatment_other, rare_grouping, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping, harrisons_view
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.
http://purl.obolibrary.org/obo/NCIT_C3101
http://identifiers.org/snomedct/32895009
http://purl.obolibrary.org/obo/DOID_630
http://identifiers.org/mesh/D030342
http://www.ebi.ac.uk/efo/EFO_0000508
http://identifiers.org/medgen/5527
http://linkedlifedata.com/resource/umls/id/C0019247