Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1258
C0040822 Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 336
C0027066 Myoclonus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 221
C0151611 Electroencephalogram abnormal phenotype Nervous System Diseases Finding Abnormality of the nervous system 209
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 163
C0018681 Headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 144
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 79
C0234533 Generalized seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 67
C0149793 Amaurosis Fugax phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the eye 44
C0005747 Blepharospasm disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of head or neck 29
C3839460 Nonprogressive phenotype Finding 24
C0239842 Tremor of hands phenotype Sign or Symptom Abnormality of the nervous system 23
C4025792 EEG with irregular generalized spike and wave complexes phenotype Finding Abnormality of the nervous system 7
C3806961 Giant somatosensory evoked potentials phenotype Finding Abnormality of the nervous system 4
C3552821 EEG with photoparoxysmal response phenotype Finding Abnormality of the nervous system 2
C3552824 Enhancement of the C-reflex phenotype Finding Abnormality of the nervous system 2
C3552825 Jerk-locked premyoclonus spikes phenotype Finding Abnormality of the nervous system 2