Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 4 19
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 30
C3888087 Charcot-Marie-Tooth disease, Type 2I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 11
C1843153 Charcot-Marie-Tooth disease, Type 2J disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 3
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 1 1
C1843075 Charcot-Marie-Tooth Disease, Dominant Intermediate D disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C4722277 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 disease Disease or Syndrome 1 1