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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant OMIM
ClinVar		 PMID:370588 PMID:627879 PMID:845663 PMID:948948 PMID:2005308 More... NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      eye disease 3365
        Eye Abnormalities 774
          Ectopia Lentis 7
            isolated ectopia lentis 3
              autosomal dominant isolated ectopia lentis 1 2
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              lens disease 421
                lens subluxation 8
                  Ectopia Lentis 7
                    isolated ectopia lentis 3
                      autosomal dominant isolated ectopia lentis 1 2
paths to the root