Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 54 6
C0008073 Developmental Disabilities group Mental Disorders Mental or Behavioral Dysfunction 30 1
C0085996 Child Development Deviations disease Mental Disorders Mental or Behavioral Dysfunction 29 0
C0085997 Child Development Disorders, Specific disease Mental Disorders Mental or Behavioral Dysfunction 29 0
C0270914 Hereditary Motor and Sensory-Neuropathy Type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 13 138
C0751122 Infantile Severe Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 13 0
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 12 52
C0393702 Myoclonic Astatic Epilepsy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 11 0
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 10 42
C0917800 Epilepsy, Myoclonic, Infantile disease Nervous System Diseases Disease or Syndrome 10 6
C0014550 Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 9 0
C0751036 Hereditary Motor and Sensory Neuropathy Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8 84
C0270912 Charcot-Marie-Tooth Disease, Type Ib disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8 51
C0270911 Charcot-Marie-Tooth Disease, Type Ia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8 20
C0205713 Roussy-Levy Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8 5
C0011303 Demyelinating Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 8 0
C0011304 Demyelination phenotype Nervous System Diseases Pathologic Function 8 0
C0338478 Idiopathic Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome 8 0
C0338479 Symptomatic Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome 8 0
C0393695 Early Childhood Epilepsy, Myoclonic disease Nervous System Diseases Disease or Syndrome 8 0
C0393703 Myoclonic Absence Epilepsy disease Nervous System Diseases Disease or Syndrome 8 0
C0438414 Myoclonic Encephalopathy disease Nervous System Diseases Disease or Syndrome 8 0
C0751120 Benign Infantile Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome 8 0
C2350037 Clinically Isolated Syndrome, CNS Demyelinating disease Nervous System Diseases Disease or Syndrome 8 0
C0011195 Dejerine-Sottas Disease (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7 28