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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated ectopia lentis
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Accession:DOID:0111148 term browser browse the term
Definition:A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. (DO)
Synonyms:exact_synonym: IEL;   familial ectopia lentis
 primary_id: MESH:C536184
 alt_id: DOID:9005987;   RDO:0001662
 xref: ICD10CM:Q12.1;   ICD9CM:743.37;   NCI:C125484;   NCI:C34566;   ORDO:1885
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        Eye Abnormalities 332
          Ectopia Lentis 4
            isolated ectopia lentis 3
              autosomal dominant isolated ectopia lentis 1 2
              autosomal recessive isolated ectopia lentis 2 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          eye disease 2390
            lens disease 196
              lens subluxation 5
                Ectopia Lentis 4
                  isolated ectopia lentis 3
                    autosomal dominant isolated ectopia lentis 1 2
                    autosomal recessive isolated ectopia lentis 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.