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ONTOLOGY REPORT - ANNOTATIONS


Term:O'Donnell Pappas Syndrome
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Accession:DOID:9003088 term browser browse the term
Synonyms:exact_synonym: FOVEAL HYPOPLASIA 1;   FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES;   FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT;   FOVEAL HYPOPLASIA WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES;   FVH1;   Foveal Hypoplasia and Presenile Cataract Syndrome;   Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts;   Foveal hypoplasia, presenile cataract
 narrow_synonym: FOVEAL HYPOPLASIA 1 WITH CATARACT;   FOVEAL HYPOPLASIA AND CATARACT
 primary_id: MESH:C537858
 alt_id: OMIM:136520;   RDO:0003771
For additional species annotation, visit the Alliance of Genome Resources.


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O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      O'Donnell Pappas Syndrome 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            cranial nerve disease 366
              ocular motility disease 107
                pathologic nystagmus 32
                  congenital nystagmus 12
                    Foveal Hypoplasia 5
                      O'Donnell Pappas Syndrome 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.