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RGD uses the Human Disease Ontology (DO, 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
 alt_id: RDO:9000916
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:615360
ClinVar Annotator: match by term: Leber congenital amaurosis 17
PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 PMID:25741868 PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      Leber congenital amaurosis 73
        Leber congenital amaurosis 17 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                Leber congenital amaurosis 17 1
paths to the root