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
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 84
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 73
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 37
C3554129 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 disease Disease or Syndrome genetic disease; disease of metabolism 1
C1824925 DEAFNESS, AUTOSOMAL RECESSIVE 70 disease Disease or Syndrome genetic disease; disease of anatomical entity 1