Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740302 5q-syndrome disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 45 1
C0000735 Abdominal Neoplasms group Neoplasms Neoplastic Process 13 0
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0855742 Abnormal platelet morphology phenotype Finding Abnormality of blood and blood-forming tissues 10 1
C4477081 Abnormal serum dehydroepiandrosterone level phenotype Finding Abnormality of the endocrine system 1 0
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 171 5
C4021820 Abnormality of reproductive system physiology phenotype Pathologic Function Abnormality of the genitourinary system 1 0
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22 0
C4025040 Abnormality of the femoral metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 4 0
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 148 18
C4025038 Abnormality of the tibial metaphysis disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 0
C0878638 Abnormality of the tongue phenotype Finding Abnormality of head or neck 25 2
C4025655 Abnormality of urine homeostasis phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 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
C1321756 Achalasia disease Disease or Syndrome disease of anatomical entity 40 5
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 65 0
C0279661 Acinar cell carcinoma of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 0
C0027859 Acoustic Neuroma disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm; Abnormality of the ear 131 3
C0271907 Acquired aplastic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12
C2936664 Acquired Hypogammaglobulinemia disease Immune System Diseases Disease or Syndrome disease of anatomical entity 89 4
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C0796147 Acrocallosal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome syndrome 9 22
C4225317 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE disease Disease or Syndrome genetic disease; disease of anatomical entity 2 3
C0001206 Acromegaly disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 138 25