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ONTOLOGY REPORT - ANNOTATIONS


Term:Foveal Hypoplasia
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Accession:DOID:9001923 term browser browse the term
Synonyms:exact_synonym: Isolated Foveal Hypoplasia
 primary_id: MESH:C565005
 alt_id: RDO:0013767
 xref: OMIM:PS136520
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Foveal Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc38a8 solute carrier family 38, member 8 JBrowse link 19 52,110,517 52,142,500 RGD:7240710
RGD:8554872
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 16021
    sensory system disease 4979
      eye disease 2391
        Hereditary Eye Diseases 550
          Foveal Hypoplasia 7
            Foveal Hypoplasia and Anterior Segment Dysgenesis 1
            O'Donnell Pappas Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            cranial nerve disease 393
              ocular motility disease 116
                pathologic nystagmus 26
                  congenital nystagmus 14
                    Foveal Hypoplasia 7
                      Foveal Hypoplasia and Anterior Segment Dysgenesis 1
                      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.