A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.

Synonyms:

Retinitis pigmentosa-deafness syndrome

Retinitis pigmentosa-hearing loss syndrome

USH

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886
hasDbXref
  • OMIM:276904
  • OMIM:601067
  • OMIM:606943
  • ICD-10:H35.5
  • OMIM:276900
  • OMIM:276901
  • OMIM:276902
  • OMIM:500004
  • OMIM:614990
  • OMIM:611383
  • MedDRA:10063396
  • MeSH:D052245
  • OMIM:612632
  • OMIM:614869
  • OMIM:602083
  • OMIM:605472
  • OMIM:614504
  • UMLS:C0271097
  • OMIM:602097
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
  • http://www.orpha.net/ORDO/Orphanet_409945
  • http://www.orpha.net/ORDO/Orphanet_409944
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence average value
  • 3.0
  • 5.0
  • 3.2
  • 4.2
  • 6.2
  • 3.5
  • 4.4
  • 3.6
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
notation
  • ORPHA:886
part of
  • http://www.orpha.net/ORDO/Orphanet_90642
  • http://www.orpha.net/ORDO/Orphanet_98661
  • http://www.orpha.net/ORDO/Orphanet_156177
present in
  • http://www.orpha.net/ORDO/Orphanet_409992
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410224
  • http://www.orpha.net/ORDO/Orphanet_410157
  • http://www.orpha.net/ORDO/Orphanet_410225
  • http://www.orpha.net/ORDO/Orphanet_410073
  • http://www.orpha.net/ORDO/Orphanet_410040
  • http://www.orpha.net/ORDO/Orphanet_410051
  • http://www.orpha.net/ORDO/Orphanet_409984
  • http://www.orpha.net/ORDO/Orphanet_410198
  • http://www.orpha.net/ORDO/Orphanet_410065

Term relations

Subclass of: