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ONTOLOGY REPORT - ANNOTATIONS


Term:primary congenital glaucoma
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Accession:DOID:0050593 term browser browse the term
Definition:A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)
Synonyms:primary_id: RDO:9004911
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primary congenital glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
RGD:13592920
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:7240710
RGD:8554872
RGD:7800719
RGD:7800711
RGD:7800707
RGD:7800689
RGD:7800688
RGD:7800680
RGD:7800670
RGD:7800657
RGD:734869
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:13592920
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:13592920
Glaucoma 3, Primary Infantile, B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:11554173
RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:11554173
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:11554173
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:1599716
G Flt1 Fms related receptor tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8549773
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549773
Primary Congenital Glaucoma 3, D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
RGD:8554872
Primary Congenital Glaucoma 3, E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:8554872
RGD:7240710

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
          primary congenital glaucoma 9
            Glaucoma 3, Primary Infantile, B 3
            Primary Congenital Glaucoma 3, C 0
            Primary Congenital Glaucoma 3, D 1
            Primary Congenital Glaucoma 3, E 1
            buphthalmos 6
            hydrophthalmos + 8
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      cardiovascular system disease 4377
        vascular disease 3338
          artery disease 2295
            hypertension 1439
              ocular hypertension 153
                glaucoma 137
                  primary congenital glaucoma 9
                    Glaucoma 3, Primary Infantile, B 3
                    Primary Congenital Glaucoma 3, C 0
                    Primary Congenital Glaucoma 3, D 1
                    Primary Congenital Glaucoma 3, E 1
                    buphthalmos 6
                    hydrophthalmos + 8
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.