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ONTOLOGY REPORT - ANNOTATIONS


Term:optic disc anomalies with retinal and/or macular dystrophy
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Accession:DOID:0080635 term browser browse the term
Definition:A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)
Synonyms:exact_synonym: ODRMD
 primary_id: OMIM:212550
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optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15849
    sensory system disease 4942
      eye disease 2378
        microphthalmia 91
          optic disc anomalies with retinal and/or macular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15849
    Developmental Diseases 9271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8086
        genetic disease 7599
          monogenic disease 5250
            autosomal genetic disease 4214
              autosomal recessive disease 2294
                optic disc anomalies with retinal and/or macular dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.