CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C3553788 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 disease Disease or Syndrome disease of anatomical entity 1 37
C1868681 DYSTONIA 12 disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 25
C1832466 CAPOS syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 10