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Loeys-Dietz syndrome 5 - Ontology Report - Rat Genome Database

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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 5
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Accession:DOID:0070236 term browser browse the term
Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: LDS5;   RNHF;   Reinhoff syndrome;   Rienhoff syndrome
 broad_synonym: TGFB3-RELATED CONDITION
 primary_id: MIM:615582
 xref: EFO:1000012

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Loeys-Dietz syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen related receptor beta ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chrNW_004955438:365,375...534,086
Ensembl chrNW_004955438:365,137...534,666 		JBrowse link
G Gpatch2l G-patch domain containing 2 like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chrNW_004955438:214,882...263,937
Ensembl chrNW_004955438:214,706...261,686 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chrNW_004955438:58,503...144,675
Ensembl chrNW_004955438:58,272...144,730 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome OMIM
ClinVar		 PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 More... NCBI chrNW_004955438:33,129...55,180
Ensembl chrNW_004955438:29,415...55,180 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chrNW_004955612:109,742...351,255
Ensembl chrNW_004955612:109,743...353,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    syndrome 9849
      Marfan syndrome 225
        Loeys-Dietz syndrome 43
          Loeys-Dietz syndrome 5 5
Path 2
Term Annotations click to browse term
  disease 14341
    disease of anatomical entity 14034
      Skin and Connective Tissue Diseases 6645
        connective tissue disease 5070
          bone disease 3689
            bone development disease 2192
              dysostosis 591
                synostosis 376
                  craniosynostosis 314
                    Loeys-Dietz syndrome 43
                      Loeys-Dietz syndrome 5 5
paths to the root