Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2930930 Abdominal obesity metabolic syndrome disease Nutritional and Metabolic Diseases Disease or Syndrome 7
C4277690 Ciliopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 4
C3266076 Orofacial cleft disease Congenital Abnormality 2
C3711374 Nonsyndromic Deafness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2
C0206669 Hepatocellular Adenoma disease Digestive System Diseases; Neoplasms Neoplastic Process Abnormality of the digestive system; Neoplasm 1
C0432211 Spondyloepimetaphyseal disorder disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 1
C4540031 Combined oxidative phosphorylation deficiency phenotype Finding 1
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 7
C0003723 Arbovirus Infections group Infections Disease or Syndrome disease by infectious agent 1
C0042769 Virus Diseases group Infections Disease or Syndrome disease by infectious agent 1
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 40
C0029882 Otitis Media disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the ear 20
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 18
C0086981 Sicca Syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 17
C1527336 Sjogren's Syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 17
C0011615 Dermatitis, Atopic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 14
C0032197 Platelet Storage Pool Deficiency disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 14
C0039685 Tetralogy of Fallot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 13
C0157946 Osteoarthrosis, localized, not specified whether primary or secondary disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 12
C0019284 Diaphragmatic Hernia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 11
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 10
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 10
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 10
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 9
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 9