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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
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant OMIM
ClinVar
PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    sensory system disease 5700
      eye disease 2776
        Eye Abnormalities 406
          Ectopia Lentis 4
            isolated ectopia lentis 3
              autosomal dominant isolated ectopia lentis 1 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          eye disease 2776
            lens disease 226
              lens subluxation 5
                Ectopia Lentis 4
                  isolated ectopia lentis 3
                    autosomal dominant isolated ectopia lentis 1 2
paths to the root