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
C3888209 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; disease of anatomical entity 1