Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C4025756 Abnormal aortic morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 29 1
C4025211 Abnormal carotid artery morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 32 0
C4020968 Abnormal localization of kidney disease Anatomical Abnormality Abnormality of the genitourinary system 40 0
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 50 2
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 104 131
C4551705 Abnormality of chromosome stability phenotype Cell or Molecular Dysfunction Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 34 1
C4021750 Abnormality of femur morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 33 1
C1387925 Abnormality of limbs phenotype Anatomical Abnormality Abnormality of limbs 8 1
C4228778 Abnormality of radial ray phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 34 0
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 31 24
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22 0
C4025819 Abnormality of the hypothalamus-pituitary axis disease Anatomical Abnormality Abnormality of the endocrine system 70 0
C4021780 Abnormality of the liver phenotype Finding Abnormality of the digestive system 75 8
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 95 8
C4022016 Abnormality of the preputium disease Anatomical Abnormality Abnormality of the genitourinary system 22 0
C0267756 Abscess of peritoneum phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 9 0
C0342526 Absent testes phenotype Finding Abnormality of the genitourinary system 24 0
C0023465 Acute monocytic leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 633 22
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C1319315 Adenocarcinoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 543 432
C0281361 Adenocarcinoma of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 518 138
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 342 108
C0032580 Adenomatous Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 609 237
C1332206 Adult Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1169 66