Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0220704 Shprintzen syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 7
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 53