Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
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 24 52
C1112256 Sensorimotor neuropathy disease Disease or Syndrome Abnormality of the nervous system 14 17
C0175709 Centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 4 12
C1847902 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 12
C4551952 Myopathy, Centronuclear, 1 disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 6
C3809272 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 disease Disease or Syndrome 1 1