Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000727 Abdomen, Acute phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0
C0000729 Abdominal Cramps phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Sign or Symptom 1 0
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 82 7
C0000744 Abetalipoproteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 61 3
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 95 1
C0000846 Agenesis disease Congenital Abnormality 161 44
C0000880 Acanthamoeba Keratitis disease Infections; Eye Diseases Disease or Syndrome 22 0
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 31 8
C0001079 Achondrogenesis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 46 15
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 74 7
C0001126 Renal tubular acidosis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 30 2
C0001127 Acidosis, Respiratory phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 12 1
C0001139 Acinetobacter Infections group Infections Disease or Syndrome 1 0
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 79 7
C0001145 Acne Keloid disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 216 14
C0001193 Apert syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome 18 15
C0001197 Acrodermatitis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 2 0
C0001202 Acrokeratosis disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 1 0
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 135 25
C0001231 ACTH Syndrome, Ectopic disease Neoplasms Disease or Syndrome disease of anatomical entity 11 0
C0001261 Actinomycosis group Infections Disease or Syndrome disease of anatomical entity; disease by infectious agent 1 0