Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0040427 Tooth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 35
C0038356 Stomach Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 34
C0008780 Ciliary Motility Disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the respiratory system 30
C0243050 Cardiovascular Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 30
C0266383 Uterine Anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 30
C0023903 Liver neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 29
C0151699 Intracranial Hemorrhage group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 28
C4011556 Abnormal eyebrow morphology group Anatomical Abnormality Abnormality of the integument; Abnormality of head or neck 28
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 27
C0014588 Epispadias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 26
C0266623 Congenital anomaly of neck group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of head or neck 26
C0026633 Mouth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 25
C0266292 Congenital anomaly of the kidney group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 25
C0497552 Congenital neurologic anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 24
C1561643 Chronic Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 24
C0005779 Blood Coagulation Disorders group Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 23
C0432073 Defect of skull ossification group Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 22
C0034885 Rectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 21
C0347509 Benign neoplasm of central nervous system group Neoplasms; Nervous System Diseases Neoplastic Process Abnormality of the nervous system; Neoplasm 21
C0022408 Arthropathy group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 18
C0027766 Nervous System Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 17
C0238198 Gastrointestinal Stromal Tumors group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 17
C0332878 Congenital contracture group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 16
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 16
C0007097 Carcinoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 15