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ONTOLOGY REPORT - ANNOTATIONS


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;   RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
 primary_id: MESH:C567636
 alt_id: OMIM:613341;   RDO:0015654
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          Hereditary Eye Diseases 507
            retinitis pigmentosa 242
              Leber congenital amaurosis 14 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    retinitis pigmentosa 242
                      Leber congenital amaurosis 14 1
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