Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 323
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 73
C0393590 Fahr's syndrome (disorder) disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 3
C0432284 Infantile myofibromatosis disease Neoplasms Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 2
C0206648 Myofibromatosis disease Neoplasms Neoplastic Process 2
C3554321 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 disease Disease or Syndrome disease of anatomical entity 1
C4225270 Kosaki overgrowth syndrome disease Disease or Syndrome 1
C4551572 MYOFIBROMATOSIS, INFANTILE, 1 disease Neoplasms Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 1
C1866182 Penttinen-Aula syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1