loading...| Preferred Name | Leber congenital amaurosis | |
| Synonyms |
Amaurosis congenita of Leber |
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| Definitions |
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_65 |
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| alternative_term |
Amaurosis congenita of Leber |
|
| definition |
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. |
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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=65 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
OMIM:204000 OMIM:604537 ICD-10:H35.5 OMIM:204100 OMIM:613829 OMIM:613826 OMIM:613835 OMIM:613837 MeSH:D057130 OMIM:179900 OMIM:604232 UMLS:C0339527 OMIM:613843 OMIM:610612 OMIM:618513 ICD-11:9B70 OMIM:614186 OMIM:615360 OMIM:608553 OMIM:613341 MedDRA:10070667 OMIM:604393 OMIM:611755 OMIM:612712 |
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| label |
Leber congenital amaurosis |
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| notation |
ORPHA:65 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_156174 http://www.orpha.net/ORDO/Orphanet_519306 http://www.orpha.net/ORDO/Orphanet_611314 |
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| prefixIRI |
ORDO:Orphanet_65 |
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| prefLabel |
Leber congenital amaurosis |
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| present_in |
Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.23 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_156174 http://www.orpha.net/ORDO/Orphanet_519306 http://www.orpha.net/ORDO/Orphanet_611314 |
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| subClassOf |