A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. [ Orphanet : 886 ]
This is just here as a test because I lose it
Term information
database
cross reference
- OMIMPS:276900 (MONDO:equivalentTo)
- NCIT:C85217 (MONDO:equivalentTo)
- MESH:D052245 (Orphanet:886/e)
- UMLS:C0271097 (Orphanet:886/e)
- DOID:0050439 (MONDO:equivalentTo)
- GARD:0007843 (MONDO:equivalentTo)
- Orphanet:886 (MONDO:equivalentTo)
- MedDRA:10063396 (Orphanet:886/e)
- ICD10CM:H35.5 (Orphanet:886/ntbt)
Subsets
ordo_disease
closeMatch
- http://identifiers.org/meddra/10063396
definition
- A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.
exactMatch
- http://purl.obolibrary.org/obo/DOID_0050439
- http://www.orpha.net/ORDO/Orphanet_886
- http://linkedlifedata.com/resource/umls/id/C0271097
- http://purl.obolibrary.org/obo/NCIT_C85217
- https://omim.org/phenotypicSeries/PS276900
- http://identifiers.org/mesh/D052245
has exact synonym
- ush
- Usher's syndrome
has narrow synonym
- deafness-retinitis pigmentosa syndrome
- retinitis pigmentosa-deafness syndrome
has related synonym
- Graefe-Usher syndrome
- dystrophia retinae pigmentosa-dysostosis syndrome
- Hallgren syndrome
id
- MONDO:0019501
should conform to
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml