Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005818 Blood Platelet Disorders group Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 13
C1853623 Fryns-Aftimos Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 2
C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 1
C1846331 Juvenile-onset dystonia disease Nervous System Diseases Disease or Syndrome 1
C0272183 Qualitative abnormality of granulocyte disease Hemic and Lymphatic Diseases Disease or Syndrome 1