Source: LHGDN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0026277 Mixed Salivary Gland Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 19
C0026847 Spinal Muscular Atrophy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 14
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 11
C0026846 Muscular Atrophy phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function disease of anatomical entity 11
C0836924 Thrombocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 10
C0008487 Chordoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 7
C0001627 Congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 7
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 6
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 6
C1334455 Pulmonary Sclerosing Hemangioma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6
C0022735 Klinefelter Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease 4
C0039585 Androgen-Insensitivity Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 2
C0041408 Turner Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2