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 | 176 | 45 | |
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 | 19 | 84 |