Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0007758 Cerebellar Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 44 58
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 37 94
C4015119 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 disease Disease or Syndrome disease of anatomical entity 1 13
C4022901 Low CSF 5-methyltetrahydrofolate phenotype Finding Abnormality of the nervous system 1 1