ONTOLOGY REPORT - ANNOTATIONS


Term:buphthalmos
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Accession:DOID:11211 term browser browse the term
Synonyms:exact_synonym: GLAUCOMA, CONGENITAL;   GLC3;   GLC3A;   Glaucoma 3, Primary Congenital, A;   simple buphthalmos
 narrow_synonym: BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET;   GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC;   GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
 primary_id: MESH:C565547
 alt_id: OMIM:231300;   RDO:0014154
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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:734869
RGD:7800657
RGD:7800670
RGD:7800680
RGD:7800688
RGD:7800689
RGD:7800707
RGD:7800711
RGD:7800719
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 Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Infant, Newborn, Diseases 405
          hydrophthalmos 8
            buphthalmos 5
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              ocular hypertension 151
                glaucoma 135
                  primary congenital glaucoma 10
                    hydrophthalmos 8
                      buphthalmos 5
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.