Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0001818 Agoraphobia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 3
C0001824 Agranulocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 7
C0001889 Akinetic Mutism disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1
C0001916 Albinism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the integument 18
C0001925 Albuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 17
C0002018 Alexia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 8
C0002063 Alkalosis phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 3
C0002064 Alkalosis, Respiratory phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function Abnormality of metabolism/homeostasis 6
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 163
C0002171 Alopecia Areata disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 4
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 12
C0002418 Amblyopia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 58
C0002452 Amelogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 26
C0002453 Amenorrhea phenotype Pathological Conditions, Signs and Symptoms Finding disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 27
C0002534 Renal Aminoacidurias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 6
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 47
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 20
C0002878 Anemia, Hemolytic disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 61
C0002880 Autoimmune hemolytic anemia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 26
C0002881 Anemia, Hemolytic, Congenital disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 6
C0002884 Hypochromic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 9
C0002886 Anemia, Macrocytic disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 31