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
C3280797 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P disease Disease or Syndrome genetic disease; disease of anatomical entity 1