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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:Dissecting Aneurysm
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Accession:DOID:9006045 term browser browse the term
Definition:An aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation.
Synonyms:exact_synonym: Blood Vessel Dissection;   Dissecting Aneurysms
 primary_id: MESH:D000784
 alt_id: RDO:0004842


show annotations for term's descendants           Sort by:
Dissecting Aneurysm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17502491 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8757037 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:15561045 RGD:1582530 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:15561045 RGD:1582530 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772368 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:16027248 PMID:16885183 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
Carotid Artery Dissection, Internal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:1301956 PMID:2088165 PMID:2318961 PMID:3263645 PMID:8882879 More... NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: Internal carotid artery dissection ClinVar PMID:25326637 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
Loeys-Dietz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP-binding cassette, sub-family A member 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 More... NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,776,393...27,929,522
Ensembl chr 2:27,776,437...27,929,526 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 More... NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:16199547 PMID:28492532 NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816 		CTD
ClinVar
MouseDO		 PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 More... NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 		CTD
ClinVar		 PMID:23824657 PMID:25741868 PMID:25835445 PMID:28492532 NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816 		CTD
ClinVar
MouseDO		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
OMIM:609192 | OMIM:610168 | OMIM:613795 | OMIM:614816 		CTD
ClinVar
MouseDO		 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
Loeys-Dietz syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 2A ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 More... NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
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 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:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II 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:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
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 chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
Loeys-Dietz syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition OMIM
ClinVar		 PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 More... NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 ClinVar PMID:28492532 PMID:30796334 NCBI chr 9:63,860,358...63,929,374
Ensembl chr 9:63,860,358...63,929,341 		JBrowse link
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 chr 1:183,078,604...183,105,356
Ensembl chr 1:183,078,134...183,106,331 		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 chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		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 chr 1:183,057,916...183,078,839
Ensembl chr 1:183,057,916...183,078,813 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		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 chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833 		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 chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		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 chr 1:183,010,580...183,057,296 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 chr 1:186,946,855...187,103,839
Ensembl chr 1:186,947,705...187,083,901 		JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,195,395...183,217,962
Ensembl chr 1:183,199,147...183,217,717 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Kcnk2 potassium channel, subfamily K, member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:188,940,127...189,134,951
Ensembl chr 1:188,940,127...189,134,470 		JBrowse link
G Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		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 chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		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 chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,394 		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 chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		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 chr 1:186,453,283...186,481,555
Ensembl chr 1:186,453,175...186,481,555 		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 chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:186,741,811...186,947,705
Ensembl chr 1:186,776,845...186,947,662 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I, A ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:183,170,251...183,195,776
Ensembl chr 1:183,170,325...183,191,020 		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 chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		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 chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 PMID:28544325 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
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 chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402 		JBrowse link
G Gpatch2l G patch domain containing 2 like ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:86,288,569...86,341,439
Ensembl chr12:86,288,632...86,338,558 		JBrowse link
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		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 chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Rienhoff syndrome ClinVar PMID:28492532 NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		JBrowse link
Loeys-Dietz syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 OMIM
ClinVar		 PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 More... NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034 		JBrowse link
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8199354 PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 More... NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 More... NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      cardiovascular system disease 4698
        vascular disease 3259
          Aneurysm 258
            Dissecting Aneurysm 54
              Carotid Artery Dissection, Internal + 2
              Loeys-Dietz syndrome + 48
              Vertebral Artery Dissection 0
paths to the root