Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 32 36
C0376532 Epilepsy, Rolandic disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 31 75
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 6 9
C0030252 Palpitations phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 6 7
C4020949 Abnormal emotion/affect behavior phenotype Behavior and Behavior Mechanisms Pathologic Function Abnormality of the nervous system 3 13
C0009676 Confusion phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 3 5
C0156404 Irregular Menstruation phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the endocrine system 2 3
C1849173 Periventricular gray matter heterotopia disease Disease or Syndrome Abnormality of the nervous system 2 3
C3280730 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 3
C3280734 FEBRILE SEIZURES, FAMILIAL, 11 disease Disease or Syndrome disease of anatomical entity 1 1