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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 5
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Accession:DOID:0110215 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)
Synonyms:exact_synonym: LCA5;   Leber congenital amaurosis, type 5
 primary_id: MESH:C536602
 alt_id: OMIM:604537;   RDO:0002232
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by OMIM:604537
ClinVar Annotator: match by term: Leber congenital amaurosis 5
OMIM
ClinVar
PMID:10631161, PMID:12642313, PMID:16123401, PMID:17546029, PMID:19503738, PMID:21606596, PMID:23946133, PMID:24474277, PMID:25356970, PMID:25741868, PMID:26352687, PMID:27624628, PMID:28492532, PMID:30311386, PMID:32214227 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
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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 5 1
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 5 1
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.