JSON

retinitis pigmentosa

^ http://purl.obolibrary.org/obo/MONDO_0019200


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 ]

Term info

database cross reference
  • GARD:0005694 (MONDO:equivalentTo)
  • MESH:D012174 (Orphanet:791/e)
  • OMIM:268000 (Orphanet:791/e)
  • MedDRA:10038914 (Orphanet:791/e)
  • NCIT:C85045 (MONDO:equivalentTo)
  • SCTID:28835009 (MONDO:equivalentTo)
  • OMIMPS:268000 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (Orphanet:791/ntbt)
  • Orphanet:791 (MONDO:equivalentTo)
  • UMLS:C4072872 (MONDO:equivalentTo)
  • UMLS:C0035334 (Orphanet:791/e)
  • DOID:10584 (MONDO:equivalentTo)
Subsets

ordo_disease, prototype_pattern, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5667, https://github.com/monarch-initiative/mondo/issues/4985

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://identifiers.org/snomedct/28835009, http://identifiers.org/mesh/D012174, https://omim.org/entry/268000, http://linkedlifedata.com/resource/umls/id/C4072872, http://purl.obolibrary.org/obo/Orphanet_791, https://omim.org/phenotypicSeries/PS268000, http://linkedlifedata.com/resource/umls/id/C0035334, http://purl.obolibrary.org/obo/NCIT_C85045, http://purl.obolibrary.org/obo/DOID_10584

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