Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
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
C1832884 Hemiplegic migraine, familial type 1 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity 10 37
C4310716 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 disease Disease or Syndrome disease of anatomical entity 1 28