Source: HPO

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 98
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 225
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
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 37
C0000921 Accidental Falls phenotype Injury or Poisoning 22
C0001075 Achlorhydria phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 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 161
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 21
C0001127 Acidosis, Respiratory phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 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
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 41
C0001624 Adrenal Gland Neoplasms group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1
C0001627 Congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 18
C0001768 Agammaglobulinemia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 19
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 162
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11
C0001816 Agnosia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 17