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
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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
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
C0311394 Difficulty walking phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system; Abnormality of the musculature 20 30
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
C4023512 Myoclonic absences disease Disease or Syndrome Abnormality of the nervous system 1 1