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
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 6 7
C3277900 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 disease Disease or Syndrome disease of anatomical entity 4 12
C0221260 Dystrophia unguium disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 4 7
C3887524 Skin Erosion disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 1 2
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C2132198 Abnormal blistering of the skin phenotype Finding Abnormality of the integument 4 10
C4024876 Palmoplantar blistering phenotype Finding Abnormality of the integument; Abnormality of limbs 2 3