CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 25 36
C0241054 Skin bullae phenotype Finding Abnormality of the integument 3 6
C0221352 Syndactyly of fingers disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 4
C0221260 Dystrophia unguium disease Disease or Syndrome Abnormality of the integument 2 5
C4024876 Palmoplantar blistering phenotype Finding Abnormality of limbs; Abnormality of the integument 2 3
C0265660 Syndactyly of the toes disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 3
C0600021 Nail absent (finding) phenotype Finding 2 3
C0037268 Skin Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 1 2
C3887524 Skin Erosion disease Disease or Syndrome Abnormality of the integument 1 2