CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3536715 AA amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C1141926 Abdominal sepsis disease Disease or Syndrome 18 0
C1860224 ABLEPHARON-MACROSTOMIA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome 41 14
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0000822 Abortion, Tubal phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1
C0014553 Absence Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 89 17
C1456418 Absence of muscle disease Congenital Abnormality physical disorder 12 2
C0278134 Absence of sensation phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5
C4316903 Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 205 8
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 64 11
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 209 21
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 167 11
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 94 37
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
C0238120 Acquired Factor XIII Deficiency disease Disease or Syndrome 1 0
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
C2732979 Acquired long QT syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 14 8
C1306214 ACTH-Secreting Pituitary Adenoma disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 67 5
C0267026 Actinic cheilitis disease Stomatognathic Diseases Disease or Syndrome disease of cellular proliferation 64 8
C1333296 Activated B-cell type diffuse large B-cell lymphoma disease Neoplastic Process 39 2
C0151332 Active tuberculosis disease Infections Disease or Syndrome 116 25
C0394996 Acute alcoholic intoxication disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 7 0