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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;   LRAT-RELATED CONDITION
 narrow_synonym: early-onset severe retinal dystrophy, LRAT-related;   juvenile retinitis pigmentosa, LRAT-related
 primary_id: MESH:C567636
 alt_id: OMIM:613341


show annotations for term's descendants           Sort by:
Leber congenital amaurosis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 14 ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 More... NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: LRAT-related condition | 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
ClinVar		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      Leber congenital amaurosis 121
        Leber congenital amaurosis 14 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              eye degenerative disease 823
                retinal degeneration 821
                  fundus dystrophy 690
                    retinitis pigmentosa 595
                      Leber congenital amaurosis 14 2
paths to the root