Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005941 Bone Diseases, Developmental group Musculoskeletal Diseases Disease or Syndrome 56 2
C0086795 Pfaundler-Hurler Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the skeletal system 17 11
C0023786 Mucopolysaccharidosis I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 14 7
C0026708 Mucopolysaccharidosis V disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 1 4