Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3711374 Nonsyndromic Deafness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 77
C0154860 Hereditary retinal dystrophy group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 7
C1568247 Usher Syndrome, Type I disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 5
C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C1848639 USHER SYNDROME, TYPE IA, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C1848638 USHER SYNDROME, TYPE IB (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 5