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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: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: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 16108
    sensory system disease 5162
      eye disease 2593
        retinal disease 777
          Leber congenital amaurosis 72
            Leber congenital amaurosis 16 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                Leber congenital amaurosis 16 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.