Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 28
C0027404 Narcolepsy disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health Abnormality of the nervous system 8
C0751362 Narcolepsy-Cataplexy Syndrome disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health 8
C0206138 CREST Syndrome disease Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; syndrome 6
C0748540 Scleroderma, Limited disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 6
C1258104 Diffuse Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 5
C0087031 Juvenile-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4
C0024301 Lymphoma, Follicular disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4
C1384600 Systemic onset juvenile chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 4
C0030805 Bullous pemphigoid disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 2
C4706583 Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies disease Neoplasms; Infections; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 2