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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 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: early-onset severe retinal dystrophy, 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 term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED OMIM
PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22570351 More... NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    physical disorder 4334
      Leber congenital amaurosis 114
        Leber congenital amaurosis 14 1
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      nervous system disease 13192
        Neurologic Manifestations 9248
          sensory system disease 6476
            eye disease 2893
              eye degenerative disease 541
                retinal degeneration 539
                  fundus dystrophy 393
                    retinitis pigmentosa 315
                      Leber congenital amaurosis 14 1
paths to the root