Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C3279660 DEAFNESS, AUTOSOMAL RECESSIVE 29 disease Disease or Syndrome genetic disease; disease of anatomical entity 1