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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 1
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Accession:DOID:0110078 term browser browse the term
Definition:A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CRB;   LCA1;   Leber congenital amaurosis, type 1;   amaurosis congenita of Leber I;   amaurosis congenita of Leber, type 1
 primary_id: MESH:C536600
 alt_id: OMIM:204000
For additional species annotation, visit the Alliance of Genome Resources.



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Leber congenital amaurosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:10873396 PMID:14555765 PMID:15249368 PMID:15347646 PMID:16123401 More... NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:10508521 PMID:11231775 PMID:12700176 PMID:12843338 PMID:15459956 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:26355662 PMID:28492532 PMID:29641573 PMID:30718709 PMID:31626798 More... NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9536098 PMID:17576681 PMID:18334959 PMID:25741868 PMID:28492532 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:25324289 PMID:25741868 PMID:28492532 PMID:29186038 PMID:29844330 More... NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:17605048 PMID:19718270 PMID:24154662 PMID:24938718 PMID:25474345 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:16123401 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9462750 PMID:17962469 PMID:25741868 PMID:26394700 PMID:28492532 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      Leber congenital amaurosis 114
        Leber congenital amaurosis 1 9
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                Leber congenital amaurosis 1 9
paths to the root