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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 13
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Accession:DOID:0110330 term browser browse the term
Definition:A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)
Synonyms:exact_synonym: LCA13
 narrow_synonym: RETINITIS PIGMENTOSA 53;   RP53
 primary_id: MESH:C567197
 alt_id: OMIM:612712;   RDO:0015338
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Leber congenital amaurosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:7240710
RGD:8554872
RGD:11554173
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 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 13 3
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 13 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.