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Mendelian disease

Disease Summary
Associated Targets (13494)
Tbio

9258

Tdark

1956

Tchem

1638

Tclin

642


Mondo Description A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.
Disease Ontology Description A disease that has_material_basis_in genetic variations in the human genome.
Mondo Term and Equivalent IDs
MONDO:0003847:  Mendelian disease
EFO:0000508: 
MESH:D030342: 
NCIT:C3101: 
SCTID:32895009: 
UMLS:C0019247: