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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 IAGP
EXP		 ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:370588 PMID:627879 PMID:845663 PMID:948948 PMID:2005308 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar PMID:17253931 PMID:17663468 PMID:24033266 PMID:24311428 PMID:24941995 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar PMID:9399842 PMID:10486319 PMID:11175294 PMID:11524736 PMID:11748851 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar PMID:16835936 PMID:19839986 PMID:24033266 PMID:25741868 PMID:26272055 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar NCBI chr15:48,644,834...48,644,963 JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    sensory system disease 9826
      eye disease 4965
        Eye Abnormalities 1017
          Ectopia Lentis 18
            isolated ectopia lentis 10
              autosomal dominant isolated ectopia lentis 1 6
Path 2
Term Annotations click to browse term
  disease 35773
    Pathological Conditions, Signs and Symptoms 21536
      Signs and Symptoms 16400
        Neurologic Manifestations 15470
          sensory system disease 9826
            eye disease 4965
              lens disease 595
                lens subluxation 19
                  Ectopia Lentis 18
                    isolated ectopia lentis 10
                      autosomal dominant isolated ectopia lentis 1 6
paths to the root