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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
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Accession:DOID:13359 term browser browse the term
Definition:A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)
Synonyms:exact_synonym: Ehlers Danlos Disease;   cutis elastica;   cutis hyperelastica;   elastic skin
 primary_id: MESH:D004535
 xref: GARD:6322;   ICD10CM:Q79.6;   ICD9CM:756.83;   MIM:PS130000;   NCI:C34568
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:241,159,724...241,172,503 		JBrowse link
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 susceptibility ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome RGD
ClinVar		 PMID:10417273 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 More... RGD:1598739 NCBI chr10:35,422,030...35,627,483
Ensembl chr10:35,422,030...35,627,483 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:68,673,199...68,775,648
Ensembl chr 8:68,673,200...68,775,572 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 More... NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T
ClinVar Annotator: match by term: Ehlers-Danlos syndrome 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:31278392 PMID:31345219 PMID:31614862 More... RGD:1599433 NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:156,348,615...156,360,799 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS 		DNA:transition mutation:splice junction:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
OMIM:225400 		CTD
ClinVar
MouseDO
RGD		 PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 More... RGD:11571617 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD		 PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 More... RGD:1581198 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
DNA:deletion:promoter, exons, introns 		ClinVar
CTD
RGD		 PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 More... RGD:1300381, RGD:11041602, RGD:11041599, RGD:7257554 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome
DNA:repeat:intron:IVS17 (human) 		CTD
ClinVar
RGD		 PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 More... RGD:1581210, RGD:1581211, RGD:1581212, RGD:734808 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO EDS type 1, OMIM:130000, EDS type 2, OMIM:130010, DNA:deletions
ClinVar Annotator: match by term: Ehlers-Danlos syndrome 		ClinVar
RGD		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 More... RGD:734809 NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Dcn decorin ISS OMIM:225400 MouseDO NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:34,163,011...34,218,926 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:26,661,326...26,740,011
Ensembl chr20:26,661,326...26,740,114 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 More... NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495 		JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:28,641,057...28,651,187 		JBrowse link
G Ipo8 importin 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:183,460,583...183,529,259
Ensembl chr 4:183,460,583...183,524,519 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8638917 RGD:1581895 NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:106,048,043...106,053,612
Ensembl chr 4:106,038,254...106,053,645 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448 		JBrowse link
G Myh11 myosin heavy chain 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Npr3 natriuretic peptide receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:62,592,557...62,660,497
Ensembl chr 2:62,597,668...62,660,066 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISS
ISO 		OMIM:225400
ClinVar Annotator: match by term: Ehlers-Danlos syndrome 		MouseDO
ClinVar		 PMID:1345174 PMID:3931636 PMID:8533783 PMID:9152832 PMID:9220536 More... NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110 		JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:182,430,193...182,478,649
Ensembl chr 3:182,430,193...182,478,649 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:21664999 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 More... NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:96,405,493...96,567,647 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:237,823,053...239,103,005 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G74D (human) 		ClinVar
CTD
RGD		 PMID:18985159 PMID:25741868 PMID:28492532 PMID:18985159 PMID:18985159 RGD:11553861, RGD:11553861 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 More... NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:8246946 PMID:9395234 PMID:9590282 PMID:10362519 PMID:11212236 More... NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Thsd4 thrombospondin type 1 domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:69,280,397...69,880,144
Ensembl chr 8:69,284,646...69,917,342 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar
RGD		 PMID:15733269 PMID:20853426 PMID:23555315 PMID:23620400 PMID:24033266 More... RGD:1599494 Ensembl chr20:4,031,082...4,090,128 JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 More... NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:96,405,493...96,567,647 		JBrowse link
G Zfp469 zinc finger protein 469 ISO
ISS 		ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition
OMIM:229200
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2 | ClinVar Annotator: match by term: PRDM5-related condition OMIM
ClinVar		 PMID:8458232 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21664999 More... NCBI chr 4:96,405,492...96,567,647
Ensembl chr 4:96,405,493...96,567,647 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:1770532 PMID:2037280 PMID:2794057 PMID:2894346 PMID:7691343 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type ClinVar PMID:2404284 PMID:8347685 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 More... RGD:734803 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: EDS VIIA | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 		ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 		ClinVar PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 More... NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 		ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 More... NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 2 ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 2 | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 OMIM
ClinVar		 PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type 		ClinVar PMID:1770532 PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3049731 PMID:3383844 PMID:6191221 PMID:7695699 PMID:7860070 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar PMID:25741868 PMID:28492532 PMID:31903434 NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr14:84,951,577...84,962,840
Ensembl chr14:84,952,822...84,962,843 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type 		ClinVar PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 		ClinVar PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:9783710 PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
OMIM:130000
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 		CTD
ClinVar
MouseDO
OMIM		 PMID:2496661 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8752669 More... NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISS
ISO 		OMIM:130000
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 		MouseDO
ClinVar		 PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: EDS I ClinVar PMID:8533766 PMID:9973293 PMID:22366786 PMID:24594375 PMID:24920671 More... NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:6,128,070...6,232,005 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 3:29,041,710...29,050,677
Ensembl chr 3:29,041,133...29,044,895 		JBrowse link
G Lum lumican ISS OMIM:130000 MouseDO NCBI chr 7:34,245,323...34,252,510
Ensembl chr 7:34,245,360...34,252,508 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 PMID:28492532 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:32,889,856...32,949,032
Ensembl chr 3:32,890,575...32,943,821 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: EDS I ClinVar PMID:28492532 NCBI chr 3:32,417,350...32,426,776
Ensembl chr 3:32,417,350...32,426,934 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 PMID:30675029 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 NCBI chr13:43,320,895...44,219,546
Ensembl chr13:43,320,891...44,218,785 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: EDS I ClinVar PMID:28492532 NCBI chr 3:32,782,544...32,807,202
Ensembl chr 3:32,782,308...32,807,201 		JBrowse link
Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 ClinVar NCBI chr14:84,951,577...84,962,840
Ensembl chr14:84,952,822...84,962,843 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II ClinVar PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 		CTD
ClinVar		 PMID:8752669 PMID:9042913 PMID:15580559 PMID:22696272 PMID:25741868 More... NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 OMIM
ClinVar		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 ClinVar PMID:8533766 PMID:9973293 PMID:22366786 PMID:24594375 PMID:24920671 More... NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:6,128,070...6,232,005 		JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 1 		CTD
ClinVar
OMIM		 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 More... Ensembl chr20:4,031,082...4,090,128 JBrowse link
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: AEBP1-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 More... NCBI chr14:84,951,577...84,962,840
Ensembl chr14:84,952,822...84,962,843 		JBrowse link
Ehlers-Danlos syndrome classic-like 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 3 ClinVar
OMIM		 PMID:25741868 NCBI chr 1:64,343,523...64,372,918
Ensembl chr 1:64,343,523...64,372,918 		JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: ADAMTS2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type
CTD Direct Evidence: marker/mechanism
DNA:deletions: : 		OMIM
ClinVar
CTD
RGD		 PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... RGD:1598738 NCBI chr10:35,422,030...35,627,483
Ensembl chr10:35,422,030...35,627,483 		JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type 		ClinVar
RGD		 PMID:21270786 PMID:25741868 PMID:25758994 PMID:26854089 PMID:27981572 More... RGD:11041770 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:28492532 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 PMID:25741868 PMID:28344932 PMID:31589614 Ensembl chr20:4,031,082...4,090,128 JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:7581394 PMID:7668254 PMID:9425230 PMID:17372139 PMID:19129531 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:156,579,785...156,601,446 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr17:79,684,988...79,718,399
Ensembl chr17:79,678,698...79,718,734 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 OMIM
ClinVar		 PMID:28492532 NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:85,037,145...85,051,808 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: ADDUCTED THUMB-CLUBFOOT SYNDROME | ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: CHST14-related condition | ClinVar Annotator: match by term: DUNDAR SYNDROME | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1
DNA:frameshift mutations, missense mutations:CDS:multiple (human)
DNA:missense mutations, deletion:CDS:multiple (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More... RGD:11061906, RGD:155663488 NCBI chr 3:126,370,348...126,372,405
Ensembl chr 3:126,370,348...126,372,777 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23704329 PMID:25703627 PMID:25741868 More... NCBI chr20:26,661,326...26,740,011
Ensembl chr20:26,661,326...26,740,114 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: C1R-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736 		JBrowse link
Ehlers-Danlos syndrome periodontal type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: C1S-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 OMIM
ClinVar		 PMID:9973493 PMID:11390518 PMID:19155518 PMID:25741868 PMID:27745832 More... NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: B4GALT7-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 More... NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		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 chr17:9,023,667...9,032,742
Ensembl chr17:9,023,618...9,032,745 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:c.483_491del9 (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... RGD:11553863 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1556139 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome
CTD Direct Evidence: marker/mechanism
DNA:transversion:intron:g.IVS10+3A>T (human)
DNA:snp:intron:c.2553+3A>C (mouse) 		OMIM
ClinVar
CTD
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11252184, RGD:11340205 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome OMIM
ClinVar		 PMID:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
vascular type Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO
ISS 		ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type
OMIM:130050 		OMIM
ClinVar
MouseDO		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked ClinVar PMID:10330348 PMID:12815592 PMID:19691550 PMID:21665257 PMID:23807571 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked | ClinVar Annotator: match by term: VALVULAR HEART DISEASE, CONGENITAL
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:cds, exons, introns:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9071288 PMID:9497244 More... RGD:11565121 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Ehlers-Danlos syndrome 67
        Brittle Cornea Syndrome + 2
        Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome + 2
        Ehlers-Danlos Syndrome Type 4 + 1
        Ehlers-Danlos Syndrome Type 7 + 6
        Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 0
        Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 0
        Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 0
        Ehlers-Danlos Syndrome, Beasley Cohen Type 0
        Ehlers-Danlos syndrome cardiac valvular type 3
        Ehlers-Danlos syndrome classic type 1 19
        Ehlers-Danlos syndrome classic type 2 5
        Ehlers-Danlos syndrome classic-like 1 1
        Ehlers-Danlos syndrome classic-like 2 1
        Ehlers-Danlos syndrome classic-like 3 1
        Ehlers-Danlos syndrome hypermobility type 3
        Ehlers-Danlos syndrome kyphoscoliotic type 1 4
        Ehlers-Danlos syndrome kyphoscoliotic type 2 1
        Ehlers-Danlos syndrome musculocontractural type 1 1
        Ehlers-Danlos syndrome musculocontractural type 2 1
        Ehlers-Danlos syndrome periodontal type 1 2
        Ehlers-Danlos syndrome periodontal type 2 2
        Ehlers-Danlos syndrome spondylodysplastic type 1 2
        Ehlers-Danlos syndrome spondylodysplastic type 2 3
        Ehlers-Danlos syndrome spondylodysplastic type 3 1
        Hernandez Aguirre-Negrete Syndrome 0
        X-linked cardiac valvular dysplasia 2
        occipital horn syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            skin disease 2824
              Genetic Skin Diseases 719
                Ehlers-Danlos syndrome 67
                  Brittle Cornea Syndrome + 2
                  Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome + 2
                  Ehlers-Danlos Syndrome Type 4 + 1
                  Ehlers-Danlos Syndrome Type 7 + 6
                  Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 0
                  Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 0
                  Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 0
                  Ehlers-Danlos Syndrome, Beasley Cohen Type 0
                  Ehlers-Danlos syndrome cardiac valvular type 3
                  Ehlers-Danlos syndrome classic type 1 19
                  Ehlers-Danlos syndrome classic type 2 5
                  Ehlers-Danlos syndrome classic-like 1 1
                  Ehlers-Danlos syndrome classic-like 2 1
                  Ehlers-Danlos syndrome classic-like 3 1
                  Ehlers-Danlos syndrome hypermobility type 3
                  Ehlers-Danlos syndrome kyphoscoliotic type 1 4
                  Ehlers-Danlos syndrome kyphoscoliotic type 2 1
                  Ehlers-Danlos syndrome musculocontractural type 1 1
                  Ehlers-Danlos syndrome musculocontractural type 2 1
                  Ehlers-Danlos syndrome periodontal type 1 2
                  Ehlers-Danlos syndrome periodontal type 2 2
                  Ehlers-Danlos syndrome spondylodysplastic type 1 2
                  Ehlers-Danlos syndrome spondylodysplastic type 2 3
                  Ehlers-Danlos syndrome spondylodysplastic type 3 1
                  Hernandez Aguirre-Negrete Syndrome 0
                  X-linked cardiac valvular dysplasia 2
                  occipital horn syndrome 1
paths to the root