Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0020615 Hypoglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism; disease of anatomical entity Abnormality of metabolism/homeostasis 12 15
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 7 8
C2919796 Glycogen storage disease type Ia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 44