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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 17
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Accession:DOID:0110217 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: LCA17
 primary_id: OMIM:615360


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Leber congenital amaurosis 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber congenital amaurosis 17		 OMIM
CTD
ClinVar		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		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 17 1
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 17 1
paths to the root