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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 16
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Accession:DOID:0110118 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: LCA16
 primary_id: OMIM:614186
 alt_id: RDO:9000511
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Leber congenital amaurosis 16
ClinVar PMID:21763485 PMID:25326637 PMID:25475713 PMID:25741868 PMID:25921210 PMID:27203561 PMID:28492532 NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 16
ClinVar Annotator: match by OMIM:614186
OMIM
ClinVar
PMID:21763485 PMID:25326637 PMID:25475713 PMID:25741868 PMID:25921210 PMID:27203561 PMID:28492532 NCBI chr 9:94,486,719...94,495,333
Ensembl chr 9:94,487,224...94,495,333
JBrowse link

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 16 2
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 16 2
paths to the root