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RGD uses the Human Disease Ontology (DO, 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: 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 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 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)
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: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:24849605, PMID:24997176, PMID:25097241, PMID:25257057, PMID:25356976, PMID:25495949, PMID:25741868, PMID:25752820, PMID:26024124, PMID:26047050, PMID:26364624, PMID:26427455, PMID:26626312, PMID:26656277, PMID:26906952, PMID:27102010, PMID:27208204, PMID:27307694, PMID:27535533, 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: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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        retinal disease 777
          Leber congenital amaurosis 72
            Leber congenital amaurosis 2 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                Leber congenital amaurosis 2 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.