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
C3860213 Autoinflammatory disorder disease Disease or Syndrome 35
C0393591 AICARDI-GOUTIERES SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 7
C1835912 AICARDI-GOUTIERES SYNDROME 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1