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ONTOLOGY REPORT - ANNOTATIONS


Term:Microphthalmia, Syndromic 3
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Accession:DOID:9005714 term browser browse the term
Synonyms:exact_synonym: AEG Syndrome;   Anophthalmia, Clinical, With Associated Anomalies;   Anophthalmia-Esophageal-Genital Syndrome;   MCOPS3;   Microphthalmia And Esophageal Atresia Syndrome;   Sox2 Anophthalmia Syndrome;   Sox2-Related Eye Disorders
 narrow_synonym: AEG SYNDROME OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
 primary_id: MESH:C565948
 alt_id: OMIM:206900
For additional species annotation, visit the Alliance of Genome Resources.


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Microphthalmia, Syndromic 3 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:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        Nervous System Malformations 787
          Microphthalmia, Syndromic 3 2
Path 2
Term Annotations click to browse term
  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        sensory system disease 4770
          eye disease 2339
            Eye Abnormalities 303
              microphthalmia 90
                syndromic microphthalmia 51
                  Microphthalmia, Syndromic 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.