ONTOLOGY REPORT - ANNOTATIONS


Term:Ectopia Lentis
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Accession:DOID:9004201 term browser browse the term
Definition:Congenital displacement of the lens resulting from defective zonule formation.
Synonyms:primary_id: MESH:D004479;   RDO:0001568
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Ectopia Lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1580380
RGD:8554872
RGD:12910481
RGD:12910479
RGD:12910140
RGD:12910138
RGD:12904906
RGD:11554173
RGD:1300363
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Ectopia Lentis with Ectopia of Pupil term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asph aspartate-beta-hydroxylase JBrowse link 5 22,577,680 22,799,333 RGD:7240710
RGD:8554872
GEMSS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
isolated ectopia lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
Microspherophakia 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:8554872
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye disease 1985
          Eye Abnormalities 283
            Ectopia Lentis 4
              Blepharoptosis Myopia Ectopia Lentis 0
              Craniosynostosis with Ectopia Lentis 0
              Ectopia Lentis with Ectopia of Pupil 1
              Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
              GEMSS Syndrome 1
              Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 0
              Microspherophakia + 1
              Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
              Noble Bass Sherman Syndrome 0
              Zazam Sheriff Phillips Syndrome 0
              isolated ectopia lentis + 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              lens disease 189
                lens subluxation 5
                  Ectopia Lentis 4
                    Blepharoptosis Myopia Ectopia Lentis 0
                    Craniosynostosis with Ectopia Lentis 0
                    Ectopia Lentis with Ectopia of Pupil 1
                    Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
                    GEMSS Syndrome 1
                    Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 0
                    Microspherophakia + 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
                    Noble Bass Sherman Syndrome 0
                    Zazam Sheriff Phillips Syndrome 0
                    isolated ectopia lentis + 3
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.