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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 chr14:56,868,361...57,060,552
Ensembl chr14:75,839,333...76,266,895 		JBrowse link
G GPATCH2L G-patch domain containing 2 like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:56,710,528...56,776,832
Ensembl chr14:75,554,507...75,606,594 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506 		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 chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr14:56,216,214...56,513,718
Ensembl chr14:75,058,897...75,356,494 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    syndrome 10733
      Marfan syndrome 233
        Loeys-Dietz syndrome 46
          Loeys-Dietz syndrome 5 5
Path 2
Term Annotations click to browse term
  disease 15838
    disease of anatomical entity 15494
      Skin and Connective Tissue Diseases 7215
        connective tissue disease 5503
          bone disease 3957
            bone development disease 2349
              dysostosis 649
                synostosis 403
                  craniosynostosis 338
                    Loeys-Dietz syndrome 46
                      Loeys-Dietz syndrome 5 5
paths to the root