A disease that has_material_basis_in genetic variations in the human genome. [ url:http://ghr.nlm.nih.gov/ http://purl.obolibrary.org/obo/ECO_0007637 ]
This is just here as a test because I lose it
Term information
database
cross reference
- UMLS_CUI:C0019247
- SNOMEDCT_US_2023_03_01:32895009
- NCI:C3101
- MESH:D030342
Subsets
DO_CFDE_slim, DO_RAD_slim, NCIthesaurus