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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
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 term: Leber congenital amaurosis 5 OMIM
ClinVar		 PMID:8571951 PMID:10631161 PMID:12642313 PMID:16123401 PMID:16199547 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956 		JBrowse link
G Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:10631161 PMID:16123401 PMID:17546029 NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      Leber congenital amaurosis 115
        Leber congenital amaurosis 5 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                Leber congenital amaurosis 5 2
paths to the root