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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
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Accession:DOID:0050466 term browser browse the term
Definition:A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)
Synonyms:exact_synonym: Loeys Dietz aortic aneurysm syndrome;   Loeys Dietz syndrome, type 1A;   Marfanoid disorder with craniosynostosis, type 2;   aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations
 primary_id: MESH:D055947
 alt_id: MESH:C538192
 xref: GARD:10788;   NCI:C75006;   OMIM:PS609192;   ORDO:60030
For additional species annotation, visit the Alliance of Genome Resources.


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Loeys-Dietz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:2049575, PMID:21086191, PMID:24033266, PMID:25637381, PMID:25741868, PMID:25758994, PMID:25846194, PMID:27011056, PMID:27964749, PMID:28492532, PMID:28748566, PMID:30374176 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
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, PMID:16596670, PMID:17324963, PMID:21784848, PMID:24199744, PMID:26796135, PMID:27914124, PMID:28492532 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar PMID:7923625, PMID:10199307, PMID:10854329, PMID:14722581, PMID:16444274, PMID:17666408, PMID:17956658, PMID:20734336, PMID:22511748, PMID:22968129, PMID:24033266, PMID:24337657, PMID:24676022, PMID:25407000, PMID:25424711, PMID:25433566, PMID:25741868, PMID:26017485, PMID:26792327, PMID:27418595, PMID:27879251, PMID:28492532, PMID:29494672, PMID:29961567 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:24033266, PMID:24711937, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22772368, PMID:23102774, PMID:24465802, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
CTD
ClinVar
PMID:7737999, PMID:23824657, PMID:23861362, PMID:24238504, PMID:24798638, PMID:25136781, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28166282, PMID:28240702, PMID:28492532, PMID:29247119, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2647812, PMID:15731757, PMID:16596670, PMID:16791849, PMID:16799921, PMID:16928994, PMID:17652900, PMID:18455604, PMID:18781618, PMID:19159394, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:20358619, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:22772368, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28152038, PMID:28492532, PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Loeys-Dietz syndrome
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loeys-Dietz Syndrome
ClinVar
CTD
PMID:8246946, PMID:9395234, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18852674, PMID:19006214, PMID:19875893, PMID:19996017, PMID:20358619, PMID:20956634, PMID:21098638, PMID:21251594, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22259224, PMID:22488992, PMID:22772368, PMID:22772377, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24146167, PMID:24220024, PMID:24792536, PMID:24793577, PMID:24941995, PMID:25116393, PMID:25203624, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27146836, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28182693, PMID:28492532, PMID:28659821, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar
OMIM
PMID:2647812, PMID:15731757, PMID:16596670, PMID:16791849, PMID:16928994, PMID:17652900, PMID:18070134, PMID:18455604, PMID:18781618, PMID:19542084, PMID:19561605, PMID:19839986, PMID:20332227, PMID:21267002, PMID:21358634, PMID:22113417, PMID:22414221, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25116393, PMID:25326635, PMID:25521989, PMID:25715477, PMID:25741868, PMID:25834947, PMID:25907466, PMID:25944730, PMID:25985138, PMID:26848186, PMID:26877057, PMID:27125181, PMID:27611364, PMID:27879313, PMID:28492532, PMID:28655553 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 ClinVar PMID:16251899, PMID:18781618, PMID:19006214, PMID:22095581, PMID:22259224, PMID:23884466, PMID:24792536, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar PMID:1569206, PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7611299, PMID:7951214, PMID:7977366, PMID:8406497, PMID:8541880, PMID:8563763, PMID:8791520, PMID:8894692, PMID:8941093, PMID:9241263, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9452033, PMID:9837823, PMID:10441597, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10612827, PMID:10647894, PMID:10874320, PMID:10942427, PMID:11068200, PMID:11108952, PMID:11137998, PMID:11139245, PMID:11143906, PMID:11170092, PMID:11175294, PMID:11251996, PMID:11524736, PMID:11700157, PMID:11722462, PMID:11748851, PMID:11826022, PMID:11880731, PMID:11933199, PMID:11967553, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12700307, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15032979, PMID:15054843, PMID:15161917, PMID:15241795, PMID:15583982, PMID:15733436, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16476890, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16835936, PMID:16905551, PMID:16971892, PMID:16995940, PMID:17224687, PMID:17253931, PMID:17418587, PMID:17618372, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17680538, PMID:17701892, PMID:17884807, PMID:18079676, PMID:18087243, PMID:18435798, PMID:18471089, PMID:18615205, PMID:19002209, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19446531, PMID:19533785, PMID:19618372, PMID:19659760, PMID:19720936, PMID:19780835, PMID:19802897, PMID:19839986, PMID:19863550, PMID:20082464, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20886638, PMID:20979188, PMID:21332468, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22262941, PMID:22393277, PMID:22539873, PMID:22772377, PMID:22913777, PMID:23133647, PMID:23278365, PMID:23684891, PMID:23719250, PMID:23744319, PMID:23897642, PMID:24033266, PMID:24039054, PMID:24161884, PMID:24199744, PMID:24296667, PMID:24635535, PMID:24665001, PMID:24793577, PMID:24833718, PMID:25053872, PMID:25101912, PMID:25652356, PMID:25656438, PMID:25736269, PMID:25741868, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26026792, PMID:26133393, PMID:26272055, PMID:26333736, PMID:26621581, PMID:26770496, PMID:26787436, PMID:26899731, PMID:27112580, PMID:27146836, PMID:27175573, PMID:27234404, PMID:27353645, PMID:27611364, PMID:27724990, PMID:27906200, PMID:28117189, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28941062, PMID:28973303, PMID:29357934, PMID:29543232, PMID:29848614, PMID:30311386, PMID:30371227, PMID:30675029, PMID:30739908 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by OMIM:610168
ClinVar Annotator: match by term: Loeys-Dietz syndrome 2
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 2
ClinVar
OMIM
PMID:8246946, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12821554, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16027248, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16333834, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16885183, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17418587, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18827873, PMID:18852674, PMID:19006214, PMID:19159394, PMID:19542084, PMID:19875893, PMID:19996017, PMID:20358619, PMID:20829218, PMID:20956634, PMID:21098638, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22488992, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24220024, PMID:24793577, PMID:24941995, PMID:24983314, PMID:25116393, PMID:25203624, PMID:25326635, PMID:25326637, PMID:25637381, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27100340, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28225382, PMID:28344185, PMID:28492532, PMID:28659821, PMID:29543232, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmpo thymopoietin 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 PMID:16247757, PMID:23861362, PMID:24033266, PMID:24375709, PMID:25741868, PMID:27662471, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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: Loeys-Dietz syndrome 3
ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
ClinVar Annotator: match by OMIM:613795
OMIM
ClinVar
PMID:15350224, PMID:16828225, PMID:21217753, PMID:21778426, PMID:21815248, PMID:22167769, PMID:23554019, PMID:24033266, PMID:24804794, PMID:25644172, PMID:25741868, PMID:25944730, PMID:28185953, PMID:28492532, PMID:29392890, PMID:29510914, PMID:29717556, PMID:30661052 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
Loeys-Dietz syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,268,045...103,292,848
Ensembl chr13:103,268,068...103,292,854
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,284,660...104,321,455
Ensembl chr13:104,284,660...104,321,455
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,063,799...106,683,353
Ensembl chr13:106,463,368...106,683,436
JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,684,300...105,824,405
Ensembl chr13:105,684,420...105,815,606
JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,637,967...102,643,376
Ensembl chr13:102,637,769...102,643,223
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631
JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,808,254...102,942,863
Ensembl chr13:102,808,253...102,942,863
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,250,576...103,250,658
Ensembl chr13:103,250,576...103,250,658
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,693,679...102,724,120
Ensembl chr13:102,698,546...102,721,218
JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,724,266...102,755,511
Ensembl chr13:102,724,348...102,756,174
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 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G RGD1310587 similar to hypothetical protein FLJ14146 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:102,780,885...102,790,621
Ensembl chr13:102,780,877...102,790,639
JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,155,824...105,178,907
Ensembl chr13:105,155,441...105,179,095
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:105,489,121...105,684,293
Ensembl chr13:105,489,074...105,684,374
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
ClinVar Annotator: match by OMIM:614816
OMIM
ClinVar
PMID:22772368, PMID:22772371, PMID:23102774, PMID:24465802, PMID:25046559, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:27782106, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386, PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:1631557, PMID:2618446, PMID:7737999, PMID:12529708, PMID:15639475, PMID:22943793, PMID:23824657, PMID:23861362, PMID:24238504, PMID:24798638, PMID:25136781, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28166282, PMID:28240702, PMID:28425089, PMID:28492532, PMID:29247119, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 ClinVar PMID:22772368 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
Loeys-Dietz syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:7737999, PMID:23824657, PMID:24798638, PMID:25136781, PMID:25741868, PMID:25835445, PMID:26184463, PMID:26188975, PMID:27848944, PMID:28425089, PMID:28492532, PMID:29392890, PMID:29907982 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
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 2 ISO ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B ClinVar PMID:8246946, PMID:9590282, PMID:9771922, PMID:9927040, PMID:11212236, PMID:12202987, PMID:12821554, PMID:12825850, PMID:15235604, PMID:15731757, PMID:16027248, PMID:16249459, PMID:16251899, PMID:16283890, PMID:16791849, PMID:16799921, PMID:16835936, PMID:16885183, PMID:16928994, PMID:17061023, PMID:17319955, PMID:17330129, PMID:17344846, PMID:17345643, PMID:17418587, PMID:17470566, PMID:17652900, PMID:17935258, PMID:18084123, PMID:18781618, PMID:18827873, PMID:18852674, PMID:19006214, PMID:19159394, PMID:19542084, PMID:19875893, PMID:19996017, PMID:20829218, PMID:20956634, PMID:21098638, PMID:21267002, PMID:21524434, PMID:22095581, PMID:22113417, PMID:22488992, PMID:23103230, PMID:23228659, PMID:23884466, PMID:24033266, PMID:24055113, PMID:24220024, PMID:24793577, PMID:24941995, PMID:24983314, PMID:25116393, PMID:25203624, PMID:25326637, PMID:25637381, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26133393, PMID:27100340, PMID:27508510, PMID:27879313, PMID:27930701, PMID:28225382, PMID:28492532, PMID:28659821, PMID:29543232, PMID:30158670 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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:25741868, PMID:27662471, PMID:28074886, PMID:28492532, PMID:28798025, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Marfan syndrome 209
        Loeys-Dietz syndrome 33
          Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity 0
          Loeys-Dietz Syndrome, Type 1b 2
          Loeys-Dietz syndrome 1 2
          Loeys-Dietz syndrome 2 3
          Loeys-Dietz syndrome 3 2
          Loeys-Dietz syndrome 4 21
          Loeys-Dietz syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Loeys-Dietz syndrome 33
                      Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity 0
                      Loeys-Dietz Syndrome, Type 1b 2
                      Loeys-Dietz syndrome 1 2
                      Loeys-Dietz syndrome 2 3
                      Loeys-Dietz syndrome 3 2
                      Loeys-Dietz syndrome 4 21
                      Loeys-Dietz syndrome 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.