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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


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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
ISS		 ClinVar Annotator: match by term: Leber congenital amaurosis 5
OMIM:604537
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 PMID:16123401 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 18969
    physical disorder 4965
      Leber congenital amaurosis 132
        Leber congenital amaurosis 5 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              retinal disease 1223
                Leber congenital amaurosis 132
                  Leber congenital amaurosis 5 2
paths to the root