Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0079474 Hallopeau-Siemens Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 51 54
C1275114 Epidermolysis Bullosa Pruriginosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 11
C0432321 Epidermolysis bullosa, pretibial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument 3 10
C0432322 Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity 2 25
C1843761 TOENAIL DYSTROPHY, ISOLATED disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 1 13
C1851573 Transient bullous dermolysis of the newborn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 13
C0268371 Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1 10