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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 4
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Accession:DOID:0110332 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: AIPL1-RELATED DISORDERS;   Amaurosis congenita of Leber, 4;   LCA4;   Leber Congenital Amaurosis, Type 4
 narrow_synonym: CONE-ROD DYSTROPHY, AIPL1-RELATED;   RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED
 primary_id: MESH:C536999;   MESH:C565778
 alt_id: DOID:9002963;   OMIM:604393;   RDO:0002736;   RDO:0014325
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Leber congenital amaurosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 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
          retinal disease 715
            Leber congenital amaurosis 63
              Leber congenital amaurosis 4 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
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 4 1
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