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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 10
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Accession:DOID:0110291 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: LCA10
 primary_id: MESH:C565720
 alt_id: OMIM:611755
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by OMIM:611755
ClinVar Annotator: match by null
DNA:mutations:exon, intron:multiple
DNA:frameshift mutations, nonsense mutations:cds, intron:multiple
ClinVar Annotator: match by term: Leber congenital amaurosis 10
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17554762, PMID:17564967, PMID:17564974, PMID:17617513, PMID:17964524, PMID:18414213, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25445212, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:17345604, PMID:16909394, PMID:18079693 RGD:11064164, RGD:11537378, RGD:11537381 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 10 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            Leber congenital amaurosis 10 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            retinal disease 783
              Leber congenital amaurosis 73
                Leber congenital amaurosis 10 2
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.