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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:18000884 PMID:19503738 PMID:21606596 PMID:23946133 PMID:24144451 PMID:24474277 PMID:25356970 PMID:25741868 PMID:26352687 PMID:27624628 PMID:28492532 PMID:32214227 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    physical disorder 2480
      Leber congenital amaurosis 72
        Leber congenital amaurosis 5 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal recessive disease 2677
                Leber congenital amaurosis 5 1
paths to the root