Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. [ Orphanet : 791 ]
This is just here as a test because I lose it
Term information
database
cross reference
- GARD:0005694 (MONDO:equivalentTo)
- UMLS:C4072872 (MONDO:equivalentTo)
- OMIM:604393 (Orphanet:791/ntbt)
- ICD10CM:H35.5 (Orphanet:791/ntbt)
- UMLS:C0035334 (Orphanet:791/e)
- MedDRA:10038914 (Orphanet:791/e)
- Orphanet:791 (MONDO:equivalentTo)
- OMIM:613341 (Orphanet:791/ntbt)
- OMIM:612712 (Orphanet:791/ntbt)
- SCTID:28835009 (MONDO:equivalentTo)
- NCIT:C85045 (MONDO:equivalentTo)
- DOID:10584 (MONDO:equivalentTo)
- MESH:D012174 (Orphanet:791/e)
- OMIM:268000 (Orphanet:791/e)
- OMIMPS:268000 (MONDO:equivalentTo)
- OMIM:604232 (Orphanet:791/ntbt)
Subsets
ordo_disease, prototype_pattern, clingen
closeMatch
- http://identifiers.org/meddra/10038914
definition
- Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
exactMatch
- http://www.orpha.net/ORDO/Orphanet_791
- http://linkedlifedata.com/resource/umls/id/C0035334
- http://purl.obolibrary.org/obo/NCIT_C85045
- http://purl.obolibrary.org/obo/DOID_10584
- https://omim.org/phenotypicSeries/PS268000
- http://identifiers.org/mesh/D012174
- http://linkedlifedata.com/resource/umls/id/C4072872
- https://omim.org/entry/268000
- http://identifiers.org/snomedct/28835009
excluded subClassOf
- http://purl.obolibrary.org/obo/MONDO_0017688
has exact synonym
- retinitis pigmentosa
has narrow synonym
- pericentral pigmentary retinopathy
has related synonym
- Rod-cone dystrophy
id
- MONDO:0019200
should conform to
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
term tracker item
- https://github.com/monarch-initiative/mondo/issues/5667
- https://github.com/monarch-initiative/mondo/issues/4985