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
C0029882 Otitis Media disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the ear 20
C0751951 Central Core Myopathy (disorder) disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0206157 Myopathies, Nemaline disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0546264 Congenital Fiber Type Disproportion disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 9
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 9
C0270962 Multi-core congenital myopathy disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 9
C2875316 Myotubular (centronuclear) myopathy disease Congenital Abnormality genetic disease; disease of anatomical entity 9
C0014848 Esophageal Achalasia disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 3
C0410189 Muscular Dystrophy, Emery-Dreifuss disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 3
C0033300 Progeria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 3
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C1854154 Charcot-Marie-Tooth disease, Type 2B1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2750785 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1