Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0153555 Malignant neoplasm of other specified sites of female breast disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 17
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the breast; Neoplasm 17
C2875300 Peroneal muscular atrophy (axonal type) (hypertrophic type) disease Disease or Syndrome disease of anatomical entity 17
C0205713 Roussy-Levy Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 17
C0086981 Sicca Syndrome disease Eye Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 17
C1527336 Sjogren's Syndrome disease Eye Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 17
C0238288 Muscular Dystrophy, Facioscapulohumeral disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 16
C0279607 Adult Hepatocellular Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 15
C0012236 DiGeorge Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; syndrome 15
C0270952 Muscular Dystrophy, Oculopharyngeal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 15
C0751337 X-Linked Emery-Dreifuss Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 15
C2875311 Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy disease Disease or Syndrome disease of anatomical entity 14
C0917713 Becker Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 14
C2875312 Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss] disease Disease or Syndrome disease of anatomical entity 14
C0699743 Congenital muscular dystrophy (disorder) disease Disease or Syndrome disease of anatomical entity Abnormality of the musculature 14
C3264046 Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber disease Congenital Abnormality; Disease or Syndrome disease of anatomical entity 14
C0751336 Distal Muscular Dystrophies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 14
C0686353 Muscular Dystrophies, Limb-Girdle group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the musculature 14
C0026850 Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 14
C0270951 Ocular muscular dystrophy disease Disease or Syndrome disease of anatomical entity 14
C0032197 Platelet Storage Pool Deficiency disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 14
C2875313 Severe [Duchenne] muscular dystrophy disease Disease or Syndrome disease of anatomical entity 14
C0011615 Dermatitis, Atopic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the integument 13
C0022521 Kartagener Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 13
C0039685 Tetralogy of Fallot disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 13