Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1321756 Achalasia disease Disease or Syndrome disease of anatomical entity 40 5
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C0001403 Addison Disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 111 13
C0271737 Addison's disease due to autoimmunity disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 44 18
C0155877 Allergic asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 371 55
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 491 375
C0002171 Alopecia Areata disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 114 54
C0263505 Alopecia universalis disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 19 2
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 710 609
C0042165 Anterior uveitis disease Eye Diseases Disease or Syndrome disease of anatomical entity 53 20
C2717865 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 450 89
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C1272321 Autoantibody measurement phenotype Laboratory Procedure 27 52
C0241910 Autoimmune Chronic Hepatitis disease Digestive System Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 213 23
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 82 142
C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 disease Disease or Syndrome 82 132
C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 disease Finding 82 141
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C4721555 Autoimmune hepatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 190 22
C2103602 Autoimmune Primary Adrenal Insufficiency disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18
C0178468 Autoimmune thyroid disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15