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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 9
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Accession:DOID:0110005 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: Amaurosis Congenita of Leber, Type 9;   LCA9;   Leber congenital amaurosis, type 9
 primary_id: MESH:C536603
 alt_id: OMIM:608553;   RDO:0002233
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Leber congenital amaurosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 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 9 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 9 1
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