Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000731 Abdomen distended phenotype Digestive System Diseases Finding Abnormality of the digestive system 103
C0000734 Abdominal mass phenotype Digestive System Diseases Finding Abnormality of the digestive system 2
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 231
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 10
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237
C0000786 Spontaneous abortion phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 58
C0000832 Abruptio Placentae phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 4
C0000887 Acantholysis phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 8
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 38
C0000921 Accidental Falls phenotype Injury or Poisoning 22
C0001075 Achlorhydria phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 1
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0001122 Acidosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of metabolism/homeostasis 9
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 167
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 22
C0001127 Acidosis, Respiratory phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 1
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 11
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 17
C0001193 Apert syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome 1
C0001202 Acrokeratosis disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 2
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 6
C0001403 Addison Disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 35
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1
C0001618 Tumors of Adrenal Cortex group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 7
C0001623 Adrenal gland hypofunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 42