Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391 49
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 384 96
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223 19
C0032914 Pre-Eclampsia phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 166 14
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 106 40
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 85 187
C0238397 Pulmonary artery stenosis disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 36 2
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 27 17
C4551602 Noonan Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 23 83
C4022662 Abnormality of lateral ventricle disease Anatomical Abnormality Abnormality of the nervous system 4 2
C1853120 Noonan Syndrome 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 2 30
C4551558 Fibromatosis, Gingival, Type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 2 9