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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
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
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
Weill-Marchesani Syndrome 2 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    sensory system disease 4979
      eye disease 2391
        Eye Abnormalities 332
          Ectopia Lentis 4
            Blepharoptosis Myopia Ectopia Lentis 0
            Craniosynostosis with Ectopia Lentis 0
            Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 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
            Weill-Marchesani Syndrome 2 1
            Zazam Sheriff Phillips Syndrome 0
            ectopia lentis with ectopia of pupil 1
            isolated ectopia lentis + 3
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            lens disease 196
              lens subluxation 5
                Ectopia Lentis 4
                  Blepharoptosis Myopia Ectopia Lentis 0
                  Craniosynostosis with Ectopia Lentis 0
                  Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 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
                  Weill-Marchesani Syndrome 2 1
                  Zazam Sheriff Phillips Syndrome 0
                  ectopia lentis with ectopia of pupil 1
                  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.