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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 4
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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: OMIM:614816


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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 chr10:11,430,758...11,466,849
Ensembl chr10:11,428,399...11,466,643 		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 chr10:9,659,876...9,684,115
Ensembl chr10:9,659,487...9,683,912 		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 chr10:11,466,173...11,486,983
Ensembl chr10:11,466,004...11,486,974 		JBrowse link
G C10H1orf115 chromosome 10 C1orf115 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,115,917...10,127,722
Ensembl chr10:10,115,923...10,127,714 		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 chr10:11,526,353...11,709,888
Ensembl chr10:11,526,619...11,709,888 		JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,866,446...10,905,852
Ensembl chr10:10,866,448...10,905,857 		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 chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501 		JBrowse link
G FAM177B family with sequence similarity 177 member B ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,491,364...11,501,865
Ensembl chr10:11,491,455...11,501,712 		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 chr10:7,615,121...7,797,227
Ensembl chr10:7,615,604...7,797,214 		JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,315,847...11,345,043
Ensembl chr10:11,315,849...11,336,308 		JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:10,263,441...10,269,882
Ensembl chr10:10,264,244...10,269,879 		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 chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159 		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 chr 9:128,429,232...128,659,662
Ensembl chr 9:128,429,092...128,661,639 		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 chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412 		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 chr10:9,980,277...10,106,507
Ensembl chr10:9,980,383...10,104,867 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:11,362,489...11,428,844
Ensembl chr10:11,377,846...11,429,015 		JBrowse link
G MIR194B microRNA mir-194b ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:9,704,910...9,704,987
Ensembl chr10:9,704,910...9,704,987 		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 chr10:10,190,759...10,264,467
Ensembl chr10:10,190,835...10,216,175 		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 chr10:10,156,732...10,194,371
Ensembl chr10:10,156,728...10,189,924 		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 chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525 		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 chr10:8,253,798...8,296,143
Ensembl chr10:8,253,822...8,303,860 		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 chr10:9,527,523...9,545,493 JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:7,797,448...8,120,892
Ensembl chr10:7,797,502...7,971,824 		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 chr10:11,340,637...11,362,432
Ensembl chr10:11,340,642...11,362,432 		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 chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		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 chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr10:5,825,591...6,662,733 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Marfan syndrome 216
        Loeys-Dietz syndrome 42
          Loeys-Dietz syndrome 4 29
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              dysostosis 561
                synostosis 363
                  craniosynostosis 304
                    Loeys-Dietz syndrome 42
                      Loeys-Dietz syndrome 4 29
paths to the root