Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0265747 Congenital atresia of nasopharynx disease Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality genetic disease; syndrome 13
C0478019 Other specified congenital malformations of respiratory system disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality genetic disease; syndrome 13
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 12
C0157946 Osteoarthrosis, localized, not specified whether primary or secondary disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 12
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
C0019284 Diaphragmatic Hernia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 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
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
C0085548 Autosomal Recessive Polycystic Kidney Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 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
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
C2713368 Hematopoetic Myelodysplasia phenotype Hemic and Lymphatic Diseases Pathologic Function disease of anatomical entity; disease of cellular proliferation 11
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
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
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
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
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
C0175702 Williams Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 10
C0206157 Myopathies, Nemaline disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 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
C0751951 Central Core Myopathy (disorder) disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0029607 Other emphysema phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 9