CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2931171 Juvenile pauciarticular chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 24 31
C3890205 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 24 31
C3898105 Oligoarticular Juvenile Idiopathic Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 24 31
C0087031 Juvenile-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C1384600 Systemic onset juvenile chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C1858558 Rheumatoid Arthritis, Systemic Juvenile disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 27 41
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 20 44
C0009447 Common Variable Immunodeficiency disease Immune System Diseases Disease or Syndrome disease of anatomical entity 28 46
C3495559 Juvenile arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 40 60
C0741260 Adult onset asthma disease Disease or Syndrome 29 62
C0920350 Autoimmune thyroiditis disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 44 66
C0523677 Glycine measurement phenotype Laboratory Procedure 32 68
C0035242 Respiratory Tract Diseases group Respiratory Tract Diseases Disease or Syndrome 77 109
C0337428 Fibrinogen assay phenotype Laboratory Procedure 52 116
C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 disease Finding 81 130
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 81 130
C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 disease Disease or Syndrome 81 130
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 88 145
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 87 178
C0264408 Childhood asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 101 193
C0013595 Eczema disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 129 198
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 104 198
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 130 199
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 104 234
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 149 276