Preferred Name | retinitis pigmentosa | |
Synonyms |
pericentral pigmentary retinopathy Rod-cone dystrophy retinitis pigmentosa |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0019200 |
|
database_cross_reference |
ICD10CM:H35.5 Orphanet:791 MEDGEN:20551 MedDRA:10038914 SCTID:28835009 OMIM:268000 NCIT:C85045 OMIMPS:268000 UMLS:C0035334 NANDO:1200431 MESH:D012174 DOID:10584 GARD:5694 NORD:1661 |
|
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. |
|
has_exact_synonym |
retinitis pigmentosa |
|
has_narrow_synonym |
pericentral pigmentary retinopathy |
|
has_related_synonym |
Rod-cone dystrophy |
|
IAO_0000233 | ||
id |
MONDO:0019200 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern |
|
label |
retinitis pigmentosa |
|
notation |
MONDO:0019200 |
|
preferred label |
retinitis pigmentosa |
|
prefLabel |
retinitis pigmentosa |
|
skos_closeMatch | ||
skos_exactMatch |
http://identifiers.org/medgen/20551 http://linkedlifedata.com/resource/umls/id/C0035334 https://omim.org/phenotypicSeries/PS268000 http://purl.obolibrary.org/obo/NCIT_C85045 http://purl.obolibrary.org/obo/Orphanet_791 http://identifiers.org/mesh/D012174 |
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subClassOf | ||
excluded_subClassOf |