Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 21
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 21
C0027888 Hereditary Motor and Sensory Neuropathies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 21
C1408182 Hereditary motor and sensory neuropathy, types I-IV disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C1408174 Hypertrophic neuropathy of infancy disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C2875300 Peroneal muscular atrophy (axonal type) (hypertrophic type) disease Disease or Syndrome genetic disease; disease of anatomical entity 21
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 21
C0348489 Other sphingolipidosis disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 7
C1836727 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 2
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 1
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 1
C0442874 Neuropathy group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1