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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 dermatosparaxis type
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Accession:DOID:0080733 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (DO)
Synonyms:exact_synonym: EDS VIIC;   EDS7C;   Ehlers-Danlos syndrome type VII, autosomal recessive;   dermatosparaxis
 primary_id: MESH:C567527
 alt_id: OMIM:225410



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Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO DNA:deletions: :
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... RGD:1598738 NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821
JBrowse link
G Arl10 ADP-ribosylation factor like GTPase 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,030,213...10,038,625
Ensembl chr17:10,030,213...10,038,703
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784
JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575
JBrowse link
G Clk4 CDC-like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,523,382...35,541,387
Ensembl chr10:35,524,755...35,541,352
JBrowse link
G Cltb clathrin, light chain B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,001,512...10,019,201
Ensembl chr17:10,001,513...10,019,169
JBrowse link
G Col23a1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,549,090...35,839,152
Ensembl chr10:35,549,113...35,836,314
JBrowse link
G Cplx2 complexin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,219,577...10,292,835
Ensembl chr17:10,222,347...10,293,855
JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,109,633...9,115,188
Ensembl chr17:9,109,597...9,115,188
JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,947,211...9,989,474
Ensembl chr17:9,947,220...9,989,485
JBrowse link
G Fam193b family with sequence similarity 193, member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,066,818...9,099,511
Ensembl chr17:9,066,707...9,099,508
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
JBrowse link
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,863,881...9,876,832
Ensembl chr17:9,863,571...9,876,915
JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
JBrowse link
G Higd2a HIG1 hypoxia inducible domain family, member 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,021,853...10,022,777
Ensembl chr17:10,021,859...10,022,796
JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863
JBrowse link
G Hnrnpab heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,857,040...35,862,935
Ensembl chr10:35,857,041...35,863,344
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
JBrowse link
G Kiaa1191 KIAA1191 homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,049,142...10,061,819
Ensembl chr17:10,049,160...10,061,819
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338
JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
JBrowse link
G N4bp3 Nedd4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,898,031...35,906,704
Ensembl chr10:35,899,096...35,907,001
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545
JBrowse link
G Nop16 NOP16 nucleolar protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,022,950...10,027,867
Ensembl chr17:10,022,932...10,027,867
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,124,565...9,139,814
Ensembl chr17:9,124,649...9,139,811
JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,217,595...9,218,122 JBrowse link
G Phykpl 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,839,965...35,863,631
Ensembl chr10:35,839,983...35,859,508
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,164,375...9,173,669
Ensembl chr17:9,165,269...9,172,536
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553
JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104
JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265
JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193
JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644
JBrowse link
G Simc1 SUMO-interacting motifs containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,061,752...10,106,938
Ensembl chr17:10,061,757...10,106,910
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Spata31d1c spermatogenesis associated 31 subfamily D, member 1C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:159,402...164,239
Ensembl chr17:159,398...164,270
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
JBrowse link
G Thoc3 THO complex subunit 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:10,143,184...10,152,375
Ensembl chr17:10,143,139...10,152,370
JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176
JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834
JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799
JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526
JBrowse link
G Zfp2 zinc finger protein 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,209,187...35,228,849
Ensembl chr10:35,207,260...35,228,853
JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635
JBrowse link
G Zfp354a zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068
JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661
JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674
JBrowse link
G Znf354b zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,233,783...35,251,110
Ensembl chr10:35,185,028...35,245,505
JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Ehlers-Danlos syndrome 253
        Ehlers-Danlos Syndrome Type 7 67
          Ehlers-Danlos syndrome dermatosparaxis type 63
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                Ehlers-Danlos syndrome 253
                  Ehlers-Danlos Syndrome Type 7 67
                    Ehlers-Danlos syndrome dermatosparaxis type 63
paths to the root