CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0393525 Progressive cerebellar ataxia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 136 23
C0752124 Spinocerebellar Ataxia Type 6 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 64 11
C1720416 Episodic ataxia type 2 (disorder) disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 13 60