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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: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 16103
    sensory system disease 5162
      eye disease 2592
        retinal disease 777
          Leber congenital amaurosis 72
            Leber congenital amaurosis 1 9
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                Leber congenital amaurosis 1 9
paths to the root

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