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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:LOEYS-DIETZ SYNDROME 6
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Accession:DOID:9006321 term browser browse the term
Definition:This is a disease that is characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings.
Synonyms:exact_synonym: LDS6
 broad_synonym: SMAD2-RELATED CONDITION
 primary_id: OMIM:619656


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LOEYS-DIETZ SYNDROME 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 | ClinVar Annotator: match by term: SMAD2-related condition OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      Marfan syndrome 221
        Loeys-Dietz syndrome 45
          LOEYS-DIETZ SYNDROME 6 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      musculoskeletal system disease 8314
        connective tissue disease 5794
          bone disease 4304
            bone development disease 2309
              dysostosis 582
                synostosis 380
                  craniosynostosis 318
                    Loeys-Dietz syndrome 45
                      LOEYS-DIETZ SYNDROME 6 1
paths to the root