ONTOLOGY REPORT - ANNOTATIONS


Term:Ehlers-Danlos syndrome
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Accession:DOID:13359 term browser browse the term
Definition:A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
Synonyms:exact_synonym: Cutis Elastica;   Cutis hyperelastica;   Ehlers Danlos Disease;   elastic skin
 primary_id: MESH:D004535
 alt_id: RDO:0001240
 xref: GARD:6322;   OMIM:PS130000
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:1599433
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11571617
RGD:13592920
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581198
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:1300381
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:7257554
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:1581210
RGD:8554872
RGD:734808
RGD:1581212
RGD:1581211
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:734809
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:13592920
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:13592920
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11553861
RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073604
G Tnxb tenascin XB RGD:1599494
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB RGD:7240710
RGD:8554872
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:11554173
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:8554872
G Wdr75 WD repeat domain 75 JBrowse link 9 52,687,845 52,717,808 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:7240710
RGD:8554872
RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
RGD:7240710
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
Ehlers-Danlos Syndrome, Cardiac Valvular Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
RGD:11554173
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link 14 86,101,253 86,111,323 RGD:8554872
RGD:7240710
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734803
RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 JBrowse link 10 36,098,051 36,304,416 RGD:7240710
RGD:8554872
RGD:1598738
Occipital Horn Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11340205
RGD:11252184
OI/EDS Combined Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:7240710
RGD:8554872
RGD:11553863
type I Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:7240710
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:13592920
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
type II Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
RGD:11554173
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
RGD:7240710
type III Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11041770
RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Tnxb tenascin XB RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Ehlers-Danlos syndrome 37
        EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 1
        EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 1
        EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 2
        Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency 1
        Ehlers-Danlos Syndrome Type 4 + 4
        Ehlers-Danlos Syndrome Type 5 0
        Ehlers-Danlos Syndrome Type 6 + 6
        Ehlers-Danlos Syndrome Type 7 + 6
        Ehlers-Danlos Syndrome Type 8 2
        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 Form 1
        Ehlers-Danlos Syndrome, Musculocontractural Type 1 1
        Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
        Ehlers-Danlos syndrome progeroid type + 2
        Hernandez Aguirre-Negrete Syndrome 0
        OI/EDS Combined Syndrome 1
        Occipital Horn Syndrome 1
        Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 1
        brittle cornea syndrome + 3
        type I Ehlers-Danlos syndrome 9
        type II Ehlers-Danlos Syndrome 4
        type III Ehlers-Danlos syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          blood coagulation disease 390
            hemorrhagic disease 376
              vascular hemostatic disease 182
                Ehlers-Danlos syndrome 37
                  EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 1
                  EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 1
                  EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 2
                  Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency 1
                  Ehlers-Danlos Syndrome Type 4 + 4
                  Ehlers-Danlos Syndrome Type 5 0
                  Ehlers-Danlos Syndrome Type 6 + 6
                  Ehlers-Danlos Syndrome Type 7 + 6
                  Ehlers-Danlos Syndrome Type 8 2
                  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 Form 1
                  Ehlers-Danlos Syndrome, Musculocontractural Type 1 1
                  Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
                  Ehlers-Danlos syndrome progeroid type + 2
                  Hernandez Aguirre-Negrete Syndrome 0
                  OI/EDS Combined Syndrome 1
                  Occipital Horn Syndrome 1
                  Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 1
                  brittle cornea syndrome + 3
                  type I Ehlers-Danlos syndrome 9
                  type II Ehlers-Danlos Syndrome 4
                  type III Ehlers-Danlos syndrome 3
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.