Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 523 30
C2973725 Pulmonary arterial hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 413 70
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
C0018916 Hemangioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the cardiovascular system 256 24
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 238 30
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223 19
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 159 12
C0424711 Orbital separation diminished phenotype Finding Abnormality of the eye 89 11
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 85 9
C1866134 Wide anterior fontanel phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 71 5
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 49 19
C1856409 Dilation of lateral ventricles phenotype Finding Abnormality of the nervous system 23 3
C1720771 Testicular Hydrocele disease Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 21 5
C0542035 Erythroid hypoplasia disease Disease or Syndrome Abnormality of blood and blood-forming tissues 14 1
C1837246 Intracerebral periventricular calcifications phenotype Finding Abnormality of the nervous system; Abnormality of the skeletal system 5 1
C0266368 Congenital absence of ovary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality Abnormality of the genitourinary system 5 1