Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0026654 Moyamoya Disease disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16
C0033847 Pseudoxanthoma Elasticum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C3276161 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 disease Disease or Syndrome disease of anatomical entity 1
C1867450 Pseudoxanthoma Elasticum, Incomplete disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1