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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 1
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Accession:DOID:0110078 term browser browse the term
Definition:A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CRB;   LCA1;   Leber congenital amaurosis, type 1;   amaurosis congenita of Leber I;   amaurosis congenita of Leber, type 1
 primary_id: MESH:C536600
 alt_id: OMIM:204000;   RDO:0002229
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Leber congenital amaurosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
G Tulp1 TUB like protein 1 JBrowse link 20 7,931,673 7,943,601 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 1 2
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 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.