Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 4
go back to main search page
Accession:DOID:0070233 term browser browse the term
Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: LDS4;   aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations
 primary_id: MIM:614816

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:5,206,365...5,240,534
Ensembl chrNW_004624835:5,207,011...5,240,269 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,704,455...3,722,825
Ensembl chrNW_004624835:3,704,664...3,718,129 		JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:5,240,643...5,261,299
Ensembl chrNW_004624835:5,240,333...5,261,416 		JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:4,112,431...4,121,013 JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:5,316,620...5,468,179
Ensembl chrNW_004624835:5,316,585...5,468,156 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:4,751,651...4,783,916
Ensembl chrNW_004624835:4,750,077...4,782,249 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,635,829...3,695,875
Ensembl chrNW_004624835:3,635,457...3,695,909 		JBrowse link
G Esrrg estrogen related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:815,230...1,326,376
Ensembl chrNW_004624835:812,742...1,015,767 		JBrowse link
G Gpatch2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:1,624,428...1,796,095
Ensembl chrNW_004624835:1,624,559...1,796,746 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:5,103,519...5,118,240 JBrowse link
G Hlx H2.0 like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:4,223,252...4,227,892
Ensembl chrNW_004624835:4,223,511...4,227,979 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,725,233...3,763,279
Ensembl chrNW_004624835:3,725,132...3,766,284 		JBrowse link
G Kcnk2 potassium two pore domain channel subfamily K member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624771:20,040,685...20,166,992
Ensembl chrNW_004624771:19,984,857...20,164,021 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:11,110...46,480 JBrowse link
G Lyplal1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,023,151...3,052,826
Ensembl chrNW_004624835:3,022,311...3,052,724 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,987,023...4,101,428
Ensembl chrNW_004624835:3,986,642...4,101,388 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:4,164,755...4,177,931
Ensembl chrNW_004624835:4,164,672...4,177,365 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:4,146,910...4,163,292
Ensembl chrNW_004624835:4,146,766...4,163,430 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,764,480...3,826,271
Ensembl chrNW_004624835:3,765,114...3,826,155 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:2,314,341...2,355,741
Ensembl chrNW_004624835:2,314,499...2,349,259 		JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:3,598,375...3,612,165
Ensembl chrNW_004624835:3,598,260...3,611,307 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:1,796,181...1,979,668
Ensembl chrNW_004624835:1,796,302...1,982,664 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:5,121,496...5,144,904
Ensembl chrNW_004624835:5,121,299...5,144,732 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 OMIM
ClinVar		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chrNW_004624835:2,363,059...2,436,536
Ensembl chrNW_004624835:2,363,139...2,437,643 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 NCBI chrNW_004624734:25,717,011...25,739,942
Ensembl chrNW_004624734:25,716,972...25,739,199 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    syndrome 9561
      Marfan syndrome 226
        Loeys-Dietz syndrome 46
          Loeys-Dietz syndrome 4 26
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      musculoskeletal system disease 7394
        connective tissue disease 5065
          bone disease 3714
            bone development disease 2200
              dysostosis 576
                synostosis 370
                  craniosynostosis 308
                    Loeys-Dietz syndrome 46
                      Loeys-Dietz syndrome 4 26
paths to the root