ONTOLOGY REPORT - ANNOTATIONS


Term:brittle cornea syndrome
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Accession:DOID:14775 term browser browse the term
Synonyms:exact_synonym: Kyphoscoliosis type;   type VIB Ehlers-Danlos syndrome
 primary_id: RDO:9004990
 xref: GARD:1019;   OMIM:PS229200
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brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Ehlers-Danlos syndrome 37
        brittle cornea syndrome 3
          Brittle Cornea Syndrome 1 2
          Brittle Cornea Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          blood coagulation disease 390
            hemorrhagic disease 376
              vascular hemostatic disease 182
                Ehlers-Danlos syndrome 37
                  brittle cornea syndrome 3
                    Brittle Cornea Syndrome 1 2
                    Brittle Cornea Syndrome 2 1
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.