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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;   LCA5-RELATED CONDITION;   LCA5-RELATED RETINOPATHY;   Leber congenital amaurosis, type 5
 primary_id: MESH:C536602
 alt_id: MIM: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 		OMIM:604537
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5 		OMIM
MouseDO
CTD
ClinVar		 PMID:3196484 PMID:8571951 PMID:9536098 PMID:10631161 PMID:12642313 More... NCBI chr 8:93,187,735...93,255,060
Ensembl chr 8:93,197,702...93,254,991 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 5 ClinVar PMID:25741868 NCBI chr11:16,763,312...16,781,295
Ensembl chr11:16,763,552...16,781,292 		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 8:93,341,149...93,433,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      Leber congenital amaurosis 145
        Leber congenital amaurosis 5 3
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              retinal disease 1474
                Leber congenital amaurosis 145
                  Leber congenital amaurosis 5 3
paths to the root