Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 1
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0001193 Apert syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome 1
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 2
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4
C0002312 alpha-Thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 2
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 37
C0002768 Congenital Pain Insensitivity disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5
C0002875 Cooley's anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 1
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 1
C0002894 Refractory anaemia with excess blasts disease Hemic and Lymphatic Diseases Neoplastic Process 1
C0002895 Anemia, Sickle Cell disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0002902 Anencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the nervous system 2
C0003076 Aniridia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 3
C0003499 Supravalvular aortic stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1
C0003803 Arnold Chiari Malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 1
C0003810 Sertoli-Leydig cell tumor of ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 1
C0004779 Basal Cell Nevus Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process genetic disease 3
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14
C0005129 Bernard-Soulier Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3
C0005138 Berylliosis disease Respiratory Tract Diseases; Occupational Diseases Injury or Poisoning disease of anatomical entity 1
C0005411 Biliary Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 1
C0005689 Bladder Exstrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of the genitourinary system 2
C0006413 Burkitt Lymphoma disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 22
C0006845 Candidiasis, Chronic Mucocutaneous disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent Abnormality of the integument; Abnormality of the immune system 5