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Usher syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019501

A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. [ Orphanet:886 ]

Synonyms: Usher's syndrome ush

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050439 (MONDO:equivalentTo)
  • GARD:7843 (Orphanet:886)
  • Orphanet:886 (MONDO:equivalentTo)
  • NCIT:C85217 (MONDO:equivalentTo)
  • OMIMPS:276900 (MONDO:equivalentTo)
  • MedDRA:10063396 (Orphanet:886/e)
  • NORD:1816 (MONDO:NORD)
  • MESH:D052245 (Orphanet:886/e)
  • ICD10CM:H35.5 (Orphanet:886/ntbt)
  • UMLS:C0271097 (Orphanet:886/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6744

https://github.com/monarch-initiative/mondo/issues/6752

https://github.com/monarch-initiative/mondo/issues/6750

closeMatch

http://identifiers.org/meddra/10063396

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)

exactMatch

http://purl.obolibrary.org/obo/DOID_0050439

http://identifiers.org/mesh/D052245

http://www.orpha.net/ORDO/Orphanet_886

https://omim.org/phenotypicSeries/PS276900

http://purl.obolibrary.org/obo/NCIT_C85217

http://linkedlifedata.com/resource/umls/id/C0271097

has narrow synonym

retinitis pigmentosa-deafness syndrome

deafness-retinitis pigmentosa syndrome

has related synonym

dystrophia retinae pigmentosa-dysostosis syndrome

Hallgren syndrome

Graefe-Usher syndrome

id

MONDO:0019501

Term relations