Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0751202 Cystathionine beta-Synthase Deficiency Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 2 76
C0019880 Homocystinuria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2 18
C3150344 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED disease Disease or Syndrome genetic disease; disease of metabolism 1 24
C3502110 Homocystinuria, Pyridoxine-Responsive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 10