Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4024667 Congenital craniofacial dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 3
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 650
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 501
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 496
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 431
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 315
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 282
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 260
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 237
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 220
C0020619 Hypogonadism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 219
C0029456 Osteoporosis disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 211
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 195
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 187
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 182
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 178
C0497156 Lymphadenopathy phenotype Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the cardiovascular system 152
C0027947 Neutropenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 118
C0018965 Hematuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 113
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 99
C0003962 Ascites phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 82
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 77
C0023530 Leukopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 75