Source: CLINVAR

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 336 579
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 37 94
C1856408 Infantile encephalopathy phenotype Nervous System Diseases Finding Abnormality of the nervous system 6 9
C0270850 Idiopathic generalized epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 3 4
C3810400 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 9
C4013473 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 disease Finding disease of anatomical entity 1 7
C1970160 Epilepsy, Childhood Absence, Susceptibility To, 4 phenotype Nervous System Diseases Finding disease of anatomical entity 1 3