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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 3
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Accession:DOID:0110331 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)
Synonyms:exact_synonym: Amaurosis congenita of Leber, 3;   LCA3;   Leber Congenital Amaurosis Type 3;   SPATA7-RELATED DISORDER
 narrow_synonym: RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED;   Retinitis pigmentosa, juvenile, autosomal recessive
 primary_id: MESH:C536998;   MESH:C565814
 alt_id: DOID:9002060;   OMIM:604232;   RDO:0002735;   RDO:0011976
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Leber congenital amaurosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata7 spermatogenesis associated 7 JBrowse link 6 122,603,248 122,648,718 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            Leber congenital amaurosis 3 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              retinal disease 715
                retinal degeneration 406
                  fundus dystrophy 263
                    retinitis pigmentosa 239
                      Leber congenital amaurosis 3 1
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