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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 14
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Accession:DOID:0110188 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: LCA14
 narrow_synonym: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED;   juvenile retinitis pigmentosa, LRAT-related
 primary_id: MESH:C567636
 alt_id: OMIM:613341
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by synonym: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
ClinVar Annotator: match by term: Leber congenital amaurosis 14
OMIM
ClinVar
PMID:11381255, PMID:17011878, PMID:18055821, PMID:22025579, PMID:25741868, PMID:28492532 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          retinitis pigmentosa 264
            Leber congenital amaurosis 14 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    Leber congenital amaurosis 14 1
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.