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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 2
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Accession:DOID:0070234 term browser browse the term
Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)
Synonyms:exact_synonym: AAT3;   LDS2;   Loeys-Dietz Syndrome, Type 2;   Loeys-Dietz Syndrome, Type 2b;   Marfan syndrome, type II;   Marfan syndrome/Loeys-Dietz syndrome/familial thoracic aortic aneurysms and dissections;   familial thoracic aortic aneurysm 3
 related_synonym: familial throacic aortic aneurysm 3
 primary_id: MESH:C537783
 alt_id: OMIM:610168
 xref: EFO:0009299;   NCI:C114768

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Loeys-Dietz syndrome 2 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: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections OMIM
ClinVar		 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections		 ClinVar PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 More... NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9495
      Marfan syndrome 210
        Loeys-Dietz syndrome 38
          Loeys-Dietz syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      Skin and Connective Tissue Diseases 6455
        connective tissue disease 5011
          bone disease 3674
            bone development disease 2182
              dysostosis 543
                synostosis 354
                  craniosynostosis 295
                    Loeys-Dietz syndrome 38
                      Loeys-Dietz syndrome 2 3
paths to the root