Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 426 87
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391 49
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223 19
C0239676 High forehead phenotype Finding Abnormality of head or neck 211 17
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 192 50
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 106 40
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 96 19
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 78 19
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 64 34
C0340279 Ventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 60 9
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 28 82