loading...| Preferred Name |
Retinitis pigmentosa |
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| Synonyms |
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| 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_791 |
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| 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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 |
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| has_age_of_onset |
Adolescent Adult Childhood |
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| has_inheritance |
Autosomal recessive Mitochondrial inheritance X-linked recessive Autosomal dominant |
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| hasDbXref |
OMIM:615233 OMIM:613660 ICD-10:H35.5 OMIM:620228 OMIM:617433 OMIM:616562 OMIM:612095 OMIM:613769 OMIM:613767 OMIM:618826 OMIM:613428 OMIM:610599 OMIM:268025 OMIM:616394 OMIM:620102 OMIM:602772 OMIM:608380 OMIM:610359 OMIM:613758 OMIM:613756 OMIM:613750 OMIM:312612 OMIM:612572 OMIM:180210 OMIM:609923 OMIM:400004 OMIM:613810 OMIM:613827 OMIM:607921 OMIM:300155 OMIM:300424 OMIM:617781 OMIM:614494 OMIM:615780 OMIM:601414 OMIM:300605 OMIM:617023 OMIM:609913 OMIM:604232 OMIM:180105 OMIM:180100 OMIM:180104 MedDRA:10038914 OMIM:613794 OMIM:612165 OMIM:615565 OMIM:613575 OMIM:617304 OMIM:613581 OMIM:613582 OMIM:610282 OMIM:613809 OMIM:613801 OMIM:613983 OMIM:268060 OMIM:601718 OMIM:618613 OMIM:268000 OMIM:618345 ICD-11:9B70 OMIM:618697 OMIM:613731 OMIM:614180 OMIM:614181 OMIM:613464 MeSH:D012174 OMIM:611131 OMIM:617123 OMIM:606068 OMIM:600132 OMIM:600138 OMIM:300029 OMIM:613341 OMIM:617460 OMIM:614500 OMIM:612943 OMIM:615922 OMIM:618220 OMIM:602594 OMIM:619007 OMIM:618173 OMIM:600059 OMIM:615725 UMLS:C0035334 OMIM:613617 OMIM:312600 OMIM:615434 OMIM:604393 OMIM:600852 OMIM:618955 OMIM:613861 OMIM:613862 OMIM:613194 OMIM:619845 OMIM:616544 OMIM:618195 OMIM:608133 OMIM:616188 OMIM:616469 OMIM:600105 OMIM:612712 |
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| label |
Retinitis pigmentosa |
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| notation |
ORPHA:791 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_156171 http://www.orpha.net/ORDO/Orphanet_519306 |
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| prefixIRI |
ORDO:Orphanet_791 |
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| prefLabel |
Retinitis pigmentosa |
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| present_in |
United States AND has_point_prevalence_average_value : 21.0 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 30.0 AND has_point_prevalence_range : 1-5 / 10 000 Korea, Republic of AND has_point_prevalence_average_value : 11.09 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 20.5 AND has_point_prevalence_range : 1-5 / 10 000 China AND has_point_prevalence_average_value : 26.4 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 22.5 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 25.4 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 26.7 AND has_point_prevalence_range : 1-5 / 10 000 Slovenia AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_156171 http://www.orpha.net/ORDO/Orphanet_519306 |
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| subClassOf |