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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:Ehlers-Danlos syndrome spondylodysplastic type 2
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Accession:DOID:0050802 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)
Synonyms:exact_synonym: EDSP2;   EDSSPD2;   Ehlers-Danlos syndrome progeroid type;   Ehlers-Danlos syndrome, progeroid type, 2
 broad_synonym: Ehlers-Danlos syndrome, progeroid form;   progeroid variant of Ehlers-Danlos syndrome
 primary_id: MIM:615349
 xref: ORDO:75496


show annotations for term's descendants           Sort by:
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 OMIM
ClinVar		 PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 More... NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 		ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More... NCBI chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339 		JBrowse link
G C5H1orf159 chromosome 5 C1orf159 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424 		JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,698,267...56,714,075 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845 		JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,899,969...35,913,015
Ensembl chr 4:35,889,392...35,912,507 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852 		JBrowse link
G DOK3 docking protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,860,006...35,873,539
Ensembl chr 4:35,861,765...35,867,450 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,695,229...36,701,988
Ensembl chr 4:36,695,107...36,699,254 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,114,784...57,122,854 JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,818,805...35,852,053
Ensembl chr 4:35,818,087...35,852,053 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,660,721...56,662,696 JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,927,470...35,943,218
Ensembl chr 4:35,913,472...35,943,221 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,471,389...36,491,757
Ensembl chr 4:36,472,949...36,529,903 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,002,963...36,023,788
Ensembl chr 4:36,002,341...36,023,787 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544 		JBrowse link
G MIR200A microRNA mir-200a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151 		JBrowse link
G MIR200B microRNA mir-200b ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,044,432...36,054,828
Ensembl chr 4:36,046,982...36,050,899 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,874,183...35,890,231 JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 		ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802 		JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,959,558...35,960,296 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,051,562...36,055,080
Ensembl chr 4:36,051,879...36,055,043 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,913,300...35,923,823
Ensembl chr 4:35,913,472...35,943,221 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,055,190...36,059,945
Ensembl chr 4:36,055,185...36,057,136 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870 		JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,984,970...35,999,386
Ensembl chr 4:35,985,132...35,999,294 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,290,548...56,293,473 JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595 		JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420 		JBrowse link
G SMIM1 small integral membrane protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr11:3,510,302...3,513,489
Ensembl chr11:3,510,724...3,513,462 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,683,707...36,694,204
Ensembl chr 4:36,685,337...36,694,183 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,339,711...36,467,035
Ensembl chr 4:36,354,922...36,466,880 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,489,583...36,551,743
Ensembl chr 4:36,490,578...36,551,935 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 4:36,269,126...36,303,647
Ensembl chr 4:36,271,853...36,303,594 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    syndrome 10625
      Ehlers-Danlos syndrome 257
        Ehlers-Danlos syndrome spondylodysplastic type 2 97
Path 2
Term Annotations click to browse term
  disease 15760
    Pathological Conditions, Signs and Symptoms 12320
      Signs and Symptoms 10319
        Neurologic Manifestations 10001
          sensory system disease 7032
            skin disease 4095
              Skin Abnormalities 1308
                Ehlers-Danlos syndrome 257
                  Ehlers-Danlos syndrome spondylodysplastic type 2 97
paths to the root