Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1346
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 887
C1861403 Variable expressivity phenotype Finding 319
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 257
C0028077 Nyctalopia disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 152
C0030232 Pallor phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 121
C0554970 Pallor of optic disc phenotype Finding Abnormality of the eye 95
C4048270 Decreased antibody level in blood phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 70
C0024312 Lymphopenia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 67
C1840457 Retinal pigment epithelial atrophy phenotype Finding Abnormality of the eye 22
C2698117 Anisocyte Measurement phenotype Laboratory Procedure 15
C0221278 Anisocytosis phenotype Finding Abnormality of blood and blood-forming tissues 15
C0271901 Microcytic hypochromic anemia (disorder) disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 12
C0427480 Elliptocytosis found phenotype Finding Abnormality of blood and blood-forming tissues 11
C0013902 Elliptocytosis, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 11
C0002896 Sideroblastic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 10
C0855790 Decreased mean corpuscular volume phenotype Finding Abnormality of blood and blood-forming tissues 6
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 4
C4073079 Photoreceptor layer loss on macular OCT phenotype Finding Abnormality of the eye 3
C0235988 Serum iron low (finding) phenotype Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis 3
C0438434 Scotoma, Ring phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the eye 2