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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
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:10508521 PMID:15024725 PMID:16543197 PMID:17724218 PMID:17964524 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Depdc1 DEP domain containing 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar PMID:9326941 PMID:9501220 PMID:18632300 PMID:28492532 NCBI chr 2:248,684,508...248,717,951
Ensembl chr 2:248,684,523...248,717,951 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Early-onset retinal dystrophy ClinVar PMID:15024725 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO DNA:nonsense mutation:cds:p.R44X (mouse)
human gene in mouse model
DNA:missense mutation:cds:p.R91W (mouse)
ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2		 OMIM
ClinVar
RGD		 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 More... RGD:737730, RGD:9495917, RGD:9495919, RGD:9495932 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      Leber congenital amaurosis 115
        Leber congenital amaurosis 2 4
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Leber congenital amaurosis 2 4
paths to the root