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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant isolated ectopia lentis 1
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Accession:DOID:0111150 term browser browse the term
Definition:An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: ECTOL1;   autosomal dominant isolated ectopia lentis;   familial ectopia lentis
 primary_id: OMIM:129600
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    sensory system disease 4971
      eye disease 2387
        Eye Abnormalities 333
          Ectopia Lentis 4
            isolated ectopia lentis 3
              autosomal dominant isolated ectopia lentis 1 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          eye disease 2387
            lens disease 196
              lens subluxation 5
                Ectopia Lentis 4
                  isolated ectopia lentis 3
                    autosomal dominant isolated ectopia lentis 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.