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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 3
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Accession:DOID:0070237 term browser browse the term
Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. (DO)
Synonyms:exact_synonym: ANEURYSMS-OSTEOARTHRITIS SYNDROME;   LDS1C;   LDS3;   LOEYS-DIETZ SYNDROME, TYPE 1C;   Loeys-Dietz syndrome with osteoarthritis
 primary_id: OMIM:613795


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Loeys-Dietz syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:15350224 PMID:16828225 More... NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Marfan syndrome 218
        Loeys-Dietz syndrome 42
          Loeys-Dietz syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      musculoskeletal system disease 8276
        connective tissue disease 5761
          bone disease 4272
            bone development disease 2304
              dysostosis 577
                synostosis 376
                  craniosynostosis 315
                    Loeys-Dietz syndrome 42
                      Loeys-Dietz syndrome 3 2
paths to the root