Amaurosi_cong%C3%A8nita_de_LeberCategory:Leber%27s_congenital_amaurosisLebersche_Kongenitale_AmauroseLeber_congenital_amaurosisAmaurosis_cong%C3%A9nita_de_LeberLeberi_t%C3%BC%C3%BCpi_p%C3%A4rilik_amauroos%D8%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8C_%D9%84%D8%A8%D8%B1(LCA)_%D8%A2%D9%85%D9%88%D8%B1%D9%88%D8%B2%DB%8C%D8%B3_%D9%85%D8%A7%D8%AF%D8%B1%D8%B2%D8%A7%D8%AF%DB%8CLeberin_synnynn%C3%A4inen_amauroosiAmaurose_cong%C3%A9nitale_de_LeberLeber-f%C3%A9le_velesz%C3%BCletett_vaks%C3%A1gAmaurosi_congenita_di_LeberWrodzona_%C5%9Blepota_LeberaAmaurose_Cong%C3%AAnita_de_Leber%D0%90%D0%BC%D0%B0%D0%B2%D1%80%D0%BE%D0%B7_%D0%9B%D0%B5%D0%B1%D0%B5%D1%80%D0%B0Q1811132
about
Jean-Baptiste-Siméon ChardinSafety Study of RPE65 Gene Therapy to Treat Leber Congenital AmaurosisClinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)Treatment of RP and LCA by Primary RPE TransplantationMulti-dose Study for Efficacy, Safety, Tolerability, Exposure of QR-110 in LCA10Extension Study to Study PQ-110-001 (NCT03140969)Single Ascending Dose Study in Participants With LCA10Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2DInherited Retinal Degenerative Disease RegistryPhase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) MutationsSafety and Efficacy Study in Subjects With Leber Congenital AmaurosisClinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsPhase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital AmaurosisNatural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRATPhase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsSafety Study in Subjects With Leber Congenital AmaurosisStudy to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 GeneGenetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
P1050
Leber congenital amaurosis 15Leber congenital amaurosis 9Leber congenital amaurosis 2Leber congenital amaurosis 1Leber congenital amaurosis 8Leber congenital amaurosis 12Leber congenital amaurosis 16Leber congenital amaurosis 14Leber congenital amaurosis 5Leber congenital amaurosis 11Leber congenital amaurosis 17Leber congenital amaurosis 10Leber congenital amaurosis 6Leber congenital amaurosis 13Leber congenital amaurosis 3Leber congenital amaurosis 4Leber congenital amaurosis 7
P279
Q207447-be7f7207-4568-4782-8ac5-54fec399842aQ61914595-FB59104B-8E4A-4503-9949-9A5010FA6051Q63319238-F01EEA5D-7CFF-44DF-A399-2170BE6AD12FQ63319978-C5DEF4F9-8E15-4F43-94DC-7685C370041BQ63398299-1FC608E4-0AE3-42D0-87A6-A29A15B7C319Q63578716-C0983E52-8BA7-40B0-BF61-E20111E10E37Q63578722-14117A84-B4B4-4CE0-87AF-8F25F9651028Q63808822-72A1F19E-5AA8-46BF-A1B9-A32AC8B1A689Q64173411-727BDDDE-3D15-4736-AA0A-C7CDE782DDBFQ64375427-B0651F44-AE1F-4DAC-B541-7274BCEAC839Q64654154-54D396E2-70BE-4BC6-A28E-4F64C1D5436DQ64666402-C560C9A6-7ACA-4168-AC28-37CAB977A5C1Q64693097-4B05FEB8-7CB5-4B3A-B105-8E3B06DD2A9DQ64695012-6D115D51-4402-4DD8-A68F-9D057CC2AEE2Q64716728-6222CB31-AB9E-4624-9940-43179B674375Q65317295-17E667F3-00FA-4216-BE2E-1EB40649296FQ65381914-67CCA8D8-F89E-444B-81BB-948A5F5AF1F5Q65469649-45F83162-F9C6-4F90-951A-8A758913CC1FQ66070775-288ACF92-F5DE-4299-9674-6D074DC7C072Q66078398-3673E82E-0C58-434D-BD0C-E48BCBBE4590Q66079209-79F0FB0B-3AA6-4D22-B023-FDD749F593E8Q66403572-59B9E87E-E1B3-4FE2-BC0F-D781A96D8D63Q66408284-7222BBED-5428-4454-8CBA-0411079B9D56
P1050
Q27674860-80DC956B-2494-4EA7-A5CF-02FCBF7D2D1BQ27677581-B8008BA4-29FD-4016-9440-A77ED4FED8B8Q27677590-23AA2655-DE20-41C0-A21A-5A0F7F523E4EQ27677616-286BF41C-BFEB-4D75-B5E0-4D491BCA950FQ27677617-1B1095E8-4711-4A6A-AFF5-D1131D58CB98Q27677618-3133A933-14AF-4E34-9229-58243078C107Q27677637-F382E04D-BC87-4465-A378-7AD0112E8C02Q27677651-926E1969-FA6C-441A-8327-AB773C270504Q27677679-05D537E7-7C06-4821-AC86-5753A43E9203Q27677680-2E72E43C-C557-4C5C-AFA1-97B65BA93637Q27677681-30057D1A-CBE2-4522-B535-689E2D1E2DB5Q27677710-CE63EAC8-1809-4798-B60A-B29A59F63F55Q27677729-A7FDFF7E-4F26-4FB0-83B8-5F8D04C2CE68Q27677730-F1E6E8E0-02B0-4F33-B42C-0073BB23982AQ27677732-60E0F1FD-E937-48CB-A580-AD346D95CD28Q27677733-B842184F-02D6-4043-B82E-A3B33B6E1BE6Q27677734-2ACF89D3-06EC-4685-8032-2E7AAAC2F403
P279
Q54838269-1EBE64B9-BB42-4F76-B70C-7E84CDFAFFCDQ54838270-DC79C6D1-25EC-4B9A-B5D1-B840375891E9Q54838963-AEBE7EA2-2FB3-4DC0-8F88-201E227F0CA9Q54838964-E2CE13EF-F38C-4028-8553-4E52F4610311Q54902183-0E05350F-9526-474E-B6FA-FF31E8A37EE5Q54902184-1D7AE813-1BF3-46FF-B2ED-401A72B1CBF2Q54902185-9C2CDB36-DFAB-4095-8E30-9C9524B112E7Q54902186-7F03CF82-39B1-468A-8A00-58FD54525909Q93453603-EF703C9D-11A7-4274-A197-0D55D9DBB181Q94318004-300C9C5A-2260-4AFA-89CB-0DCCF3923D36Q95980266-5B34E55F-A464-4DD5-8375-2CFA4BC31EC9
P5166
description
Krankheit
@de
a szem betegsége
@hu
maladie génétique grave de la rétine
@fr
rara malattia genetica della retina che comporta la cecità nei nascituri
@it
retinal disease that is charac ...... evere vision loss or blindness
@en
name
Amaurose congénitale de Leber
@fr
Amaurosi congènita de Leber
@ca
Amaurosis congénita de Leber
@es
Leber congenital amaurosis
@en
Leber-féle veleszületett vakság
@hu
Leberi tüüpi pärilik amauroos
@et
Leberin synnynnäinen amauroosi
@fi
Lebersche Kongenitale Amaurose
@de
Neuropatia óptica hereditária de Leber
@pt
Wrodzona ślepota Lebera
@pl
type
label
Amaurose congénitale de Leber
@fr
Amaurosi congènita de Leber
@ca
Amaurosis congénita de Leber
@es
Leber congenital amaurosis
@en
Leber-féle veleszületett vakság
@hu
Leberi tüüpi pärilik amauroos
@et
Leberin synnynnäinen amauroosi
@fi
Lebersche Kongenitale Amaurose
@de
Neuropatia óptica hereditária de Leber
@pt
Wrodzona ślepota Lebera
@pl
altLabel
AMAUROSIS CONGENITA OF LEBER I
@en
Amaurose Congénitale De Leber
@fr
Amaurose congenitale de Leber
@fr
Amaurose congénitale de leber
@fr
Amaurosis congenita de Leber
@es
Kongenitale tapeto-retinale Amaurose
@de
LCA
@en
Leber congenital amaurosis type 13
@en
Leber congenital amaurosis type 14
@en
Leber's amaurosis (disorder)
@en
prefLabel
Amaurose congénitale de Leber
@fr
Amaurosi congènita de Leber
@ca
Amaurosis congénita de Leber
@es
Leber congenital amaurosis
@en
Leber-féle veleszületett vakság
@hu
Leberi tüüpi pärilik amauroos
@et
Leberin synnynnäinen amauroosi
@fi
Lebersche Kongenitale Amaurose
@de
Neuropatia óptica hereditária de Leber
@pt
Wrodzona ślepota Lebera
@pl
P2888
P486
P6366
P646
P138
P1417
science/Lebers-disease
P1748
P1995
P2293
P279
P2892
P373
Leber's congenital amaurosis
P486
P492
P6366
2779356665
P646
P668
P672
C11.270.516
C11.768.364
P699
DOID:14791