Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0009207 Cockayne Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 11
C0270972 Cornelia De Lange Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 11
C0019284 Diaphragmatic Hernia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 11
C2713368 Hematopoetic Myelodysplasia phenotype Hemic and Lymphatic Diseases Pathologic Function disease of anatomical entity; disease of cellular proliferation 11
C0027877 Neuronal Ceroid-Lipofuscinoses disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 11
C0220701 RETINITIS PIGMENTOSA 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0265205 Robinow Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 11
C0037773 Spastic Paraplegia, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0022797 Adult Neuronal Ceroid Lipofuscinosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 10
C0751951 Central Core Myopathy (disorder) disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 10
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 10
C0015696 Fatty Liver, Alcoholic disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome genetic disease; disease of metabolism 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
C0751383 Juvenile Neuronal Ceroid Lipofuscinosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 10
C0162809 Kallmann Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0022340 Late-Infantile Neuronal Ceroid Lipfuscinosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 10
C0206157 Myopathies, Nemaline disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 10
C0029434 Osteogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of anatomical entity 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
C0175702 Williams Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 10
C0175701 Aarskog syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 9
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 9
C0752166 Bardet-Biedl Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 9