CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0017923 | Glycogen Storage Disease Type IV | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 10 | 21 | |
C1849722 | Polyglucosan Body Disease, Adult Form | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | 3 | 7 | ||
C4017118 | ADULT POLYGLUCOSAN BODY NEUROPATHY | disease | Finding | 1 | 5 | |||
C4017116 | GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC | phenotype | Finding | 1 | 1 |