CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0265660 Syndactyly of the toes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 11 11
C0221352 Syndactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 8 10
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C4024876 Palmoplantar blistering phenotype Finding Abnormality of the integument; Abnormality of limbs 2 3