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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Leber congenital amaurosis 2
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Accession:DOID:0110016 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. (DO)
Synonyms:exact_synonym: EARLY-ONSET RETINAL DYSTROPHY;   LCA2;   Leber congenital amaurosis type 2;   Leber congenital amaurosis type II;   amaurosis congenita of Leber II
 broad_synonym: RPE65-RELATED DISORDER
 primary_id: MESH:C536601
 alt_id: OMIA:001222;   OMIM:204100;   RDO:0002231
For additional species annotation, visit the Alliance of Genome Resources.

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Leber congenital amaurosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 PMID:16543197 PMID:17724218 PMID:17964524 PMID:19140180 PMID:20079931 PMID:20956273 PMID:22065545 PMID:23449718 PMID:25133751 PMID:25323024 PMID:26147992 PMID:28492532 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:28492532 NCBI chr 2:264,704,738...264,738,265
Ensembl chr 2:264,704,769...264,738,257 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2
ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II
ClinVar Annotator: match by OMIM:204100
DNA:nonsense mutation:cds:p.R44X (mouse)
human gene in mouse model
DNA:missense mutation:cds:p.R91W (mouse)		 ClinVar
OMIM		 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9801879 PMID:10090910 PMID:10766140 PMID:10937591 PMID:11035546 PMID:11095629 PMID:11295838 PMID:11462243 PMID:11786058 PMID:12960219 PMID:13616783 PMID:14962443 PMID:14971589 PMID:15024725 PMID:15512997 PMID:15557452 PMID:16096063 PMID:16123401 PMID:16123440 PMID:16150724 PMID:16754667 PMID:16828753 PMID:17197551 PMID:17724218 PMID:17964524 PMID:18055820 PMID:18441371 PMID:18484312 PMID:18539930 PMID:18599565 PMID:18632300 PMID:18682808 PMID:18722466 PMID:19117922 PMID:19431183 PMID:19753312 PMID:19854499 PMID:19920137 PMID:19959640 PMID:20079931 PMID:20604683 PMID:20683928 PMID:20801516 PMID:20811047 PMID:21151602 PMID:21153841 PMID:21211845 PMID:21602930 PMID:21654732 PMID:21911650 PMID:22334370 PMID:23591405 PMID:23661369 PMID:24066033 PMID:24265693 PMID:24849605 PMID:24997176 PMID:25097241 PMID:25257057 PMID:25356976 PMID:25495949 PMID:25741868 PMID:25752820 PMID:26024124 PMID:26047050 PMID:26355662 PMID:26364624 PMID:26427455 PMID:26626312 PMID:26656277 PMID:26906952 PMID:27102010 PMID:27208204 PMID:27307694 PMID:27535533 PMID:27874104 PMID:28041643 PMID:28041994 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28393863 PMID:28492532 PMID:28714225 PMID:29178642 PMID:29186038 PMID:29332120 PMID:29659842 PMID:29681726 PMID:29785639 PMID:29947567 PMID:30268864 PMID:30311386 PMID:30628748 PMID:30718709 PMID:30870047 PMID:30996589 PMID:31273949 PMID:31379919 PMID:31725702 PMID:32295525, PMID:14517541, PMID:24644049, PMID:16505056, PMID:17933883 RGD:737730, RGD:9495917, RGD:9495919, RGD:9495932 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197 		JBrowse link
Term paths to the root
Path 1
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  disease 16085
    physical disorder 2526
      Leber congenital amaurosis 73
        Leber congenital amaurosis 2 4
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Leber congenital amaurosis 2 4
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