Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3698507 Post-traumatic Porencephaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality disease of anatomical entity 1
C1849930 Persistent Mullerian duct syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality disease of anatomical entity 1
C2919945 Cavernous Hemangioma of Brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity 1
C0009691 Congenital cataract disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 17
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
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
C0043346 Xeroderma Pigmentosum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 9
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 9
C0270962 Multi-core congenital myopathy disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 9
C0546264 Congenital Fiber Type Disproportion disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 9
C2875316 Myotubular (centronuclear) myopathy disease Congenital Abnormality genetic disease; disease of anatomical entity 9
C0266483 Pachygyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 8
C0266463 Lissencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 7
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 6
C0014116 Endocardial Cushion Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 6
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 6
C0002452 Amelogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 5
C0008445 Chondrodysplasia Punctata disease Musculoskeletal Diseases Congenital Abnormality genetic disease; syndrome 5
C0031900 Pierre Robin Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome Abnormality of head or neck 5
C0432195 Short rib dysplasia disease Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality genetic disease 5
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 4
C0011436 Dentinogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 4
C0016522 Foramen Ovale, Patent disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 4
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 4