Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 73
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 30
C0014553 Absence Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 2
C0270816 epilepsy and migraine disease Disease or Syndrome 2
C4310716 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 disease Disease or Syndrome disease of anatomical entity 1
C1720416 Episodic ataxia type 2 (disorder) disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C1832884 Hemiplegic migraine, familial type 1 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
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 1