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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;   RDO:0002229
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 PMID:18055820 PMID:22412862 PMID:23737531 PMID:25741868 PMID:28492532 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:11231775 PMID:12843338 PMID:15459956 PMID:16272259 PMID:17128490 PMID:17297678 PMID:18055816 PMID:20079931 PMID:20956273 PMID:22065545 PMID:23379534 PMID:24033266 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28005958 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29178642 PMID:29391521 PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:9427255 PMID:26355662 PMID:26682157 PMID:28492532 PMID:30718709 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
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
ClinVar Annotator: match by OMIM:204000
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9618177 PMID:9683616 PMID:9888789 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11565546 PMID:12325031 PMID:12552567 PMID:15024725 PMID:15175914 PMID:16123401 PMID:16205573 PMID:16505055 PMID:17724218 PMID:17964524 PMID:18055820 PMID:20050595 PMID:20683928 PMID:21602930 PMID:23035049 PMID:23484092 PMID:23847139 PMID:24033266 PMID:24875811 PMID:24997176 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26352687 PMID:26626312 PMID:26957854 PMID:27422788 PMID:28041643 PMID:28492532 PMID:29061346 PMID:29178642 PMID:29559409 PMID:30311386 PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 1 ClinVar PMID:11528500 PMID:12920076 PMID:16123401 PMID:16374347 PMID:21224891 PMID:21857984 PMID:22277662 PMID:23105016 PMID:25741868 PMID:27884173 PMID:28041643 PMID:28492532 PMID:30576320 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
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 PMID:29178942 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      Leber congenital amaurosis 73
        Leber congenital amaurosis 1 9
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 1 9
paths to the root