Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
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
C2132198 Abnormal blistering of the skin phenotype Finding Abnormality of the integument 4 10
C0221260 Dystrophia unguium disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 4 7
C4024876 Palmoplantar blistering phenotype Finding Abnormality of the integument; Abnormality of limbs 2 3
C3887524 Skin Erosion disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 1 2
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