Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.400 None 1.000 2 1 2013 2015