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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: ADAMTS2-RELATED CONDITION;   EDS VIIC;   EDS7C;   Ehlers-Danlos syndrome type VII, autosomal recessive;   dermatosparaxis
 primary_id: MESH:C567527
 alt_id: MIM: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 ClinVar Annotator: match by term: ADAMTS2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type OMIM
ClinVar		 PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... NCBI chr23:80,852,588...81,081,593
Ensembl chr23:80,852,331...81,080,218 		JBrowse link
G ARL10 ARF 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 chr23:78,368,593...78,377,869
Ensembl chr23:78,369,699...78,375,855 		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 chr23:79,617,929...79,628,265
Ensembl chr23:79,617,963...79,628,377 		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 chr23:81,422,701...81,454,683
Ensembl chr23:81,422,693...81,482,332 		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 chr23:81,403,674...81,405,505 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 chr23:78,571,170...78,602,699
Ensembl chr23:78,571,792...78,602,552 		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 chr23:80,290,716...80,313,200
Ensembl chr23:80,288,120...80,313,255 		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 chr23:78,396,089...78,420,860
Ensembl chr23:78,396,413...78,420,819 		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 chr23:79,932,340...80,279,808 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 chr23:77,943,553...78,031,083
Ensembl chr23:78,025,798...78,027,094 		JBrowse link
G CUNH5orf60 chromosome unknown C5orf60 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 chr23:81,371,078...81,374,167 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 chr23:79,468,010...79,484,603
Ensembl chr23:79,467,647...79,484,592 		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 chr23:79,522,265...79,528,628
Ensembl chr23:79,522,479...79,527,570 		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 chr23:79,514,800...79,522,176
Ensembl chr23:79,515,025...79,520,557 		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 chr23:78,650,378...78,653,912
Ensembl chr23:78,650,330...78,653,524 		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 chr23:79,414,074...79,438,896
Ensembl chr23:79,414,225...79,432,298 		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 chr23:78,421,558...78,515,671
Ensembl chr23:78,456,545...78,516,245 		JBrowse link
G FAM153B family with sequence similarity 153 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...
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 chr23:79,530,685...79,567,667
Ensembl chr23:79,530,172...79,559,701 		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 chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456 		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 chr23:78,602,680...78,617,580
Ensembl chr23:78,603,690...78,606,710 		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 chr23:79,437,056...79,454,213
Ensembl chr23:79,437,078...79,453,113 		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 chr23:80,732,687...80,747,389
Ensembl chr23:80,733,486...80,746,708 		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 chr23:78,392,364...78,393,407 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 chr23:78,888,087...78,908,608
Ensembl chr23:78,888,291...78,906,995 		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 chr23:79,891,942...79,903,289 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 chr23:81,330,777...81,340,470
Ensembl chr23:81,330,351...81,339,882 		JBrowse link
G KIAA1191 KIAA1191 ortholog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr23:78,345,378...78,362,880
Ensembl chr23:78,346,892...78,362,901 		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 chr23:79,337,076...79,358,653
Ensembl chr23:79,336,997...79,358,421 		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 chr23:81,523,784...81,526,297
Ensembl chr23:81,523,775...81,526,179 		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 chr23:81,456,537...81,508,893
Ensembl chr23:81,496,033...81,506,497 		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 chr23:81,527,419...81,536,715
Ensembl chr23:81,526,533...81,536,708 		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 chr23:79,317,049...79,323,811
Ensembl chr23:79,317,436...79,322,431 		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 chr23:79,806,731...79,815,284
Ensembl chr23:79,806,910...79,814,881 		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 chr23:79,842,690...79,847,138
Ensembl chr23:79,842,948...79,846,984 		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 chr23:78,387,634...78,392,405
Ensembl chr23:78,387,877...78,392,238 		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 chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820 		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 chr23:79,494,695...79,508,950
Ensembl chr23:79,493,927...79,508,714 		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 chr23:79,412,093...79,412,840
Ensembl chr23:79,412,147...79,412,560 		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 chr23:79,900,615...79,926,879
Ensembl chr23:79,898,807...79,926,305 		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 chr23:79,313,442...79,316,788 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 chr23:79,704,746...79,710,013
Ensembl chr23:79,705,287...79,708,566 		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 chr23:79,458,347...79,467,421
Ensembl chr23:79,466,186...79,467,257 		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 chr23:79,311,135...79,313,414
Ensembl chr23:79,310,704...79,312,994 		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 chr23:79,370,320...79,385,355
Ensembl chr23:79,370,087...79,387,192 		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 chr23:79,823,479...79,846,059
Ensembl chr23:79,823,565...79,841,104 		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 chr23:78,533,012...78,544,252
Ensembl chr23:78,531,305...78,538,504 		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 chr23:81,260,109...81,326,818
Ensembl chr23:81,269,663...81,330,154 		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 chr23:78,255,678...78,345,307
Ensembl chr23:78,255,754...78,344,759 		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 chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695 		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 chr23:78,626,876...78,637,337
Ensembl chr23:78,627,479...78,636,287 		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 chr23:81,536,271...81,571,061
Ensembl chr23:81,558,082...81,574,830 		JBrowse link
G THOC3 THO complex 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 chr23:78,106,835...78,115,342
Ensembl chr23:78,106,635...78,115,269 		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 chr23:79,609,832...79,613,960
Ensembl chr23:79,609,826...79,614,084 		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 chr23:78,654,954...78,667,299
Ensembl chr23:78,655,055...78,667,462 		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 chr23:78,912,434...79,010,695
Ensembl chr23:78,911,234...79,010,264 		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 chr23:78,819,521...78,888,116
Ensembl chr23:78,871,865...78,890,665 		JBrowse link
G ZFP2 ZFP2 zinc finger 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 chr23:80,649,631...80,686,330 JBrowse link
G ZNF346 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 chr23:79,010,203...79,072,063
Ensembl chr23:79,027,548...79,070,705 		JBrowse link
G ZNF354A 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 chr23:80,407,134...80,425,920
Ensembl chr23:80,407,085...80,423,055 		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 chr23:80,607,607...80,637,849
Ensembl chr23:80,622,444...80,636,458 		JBrowse link
G ZNF354C 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 chr23:80,811,135...80,832,331
Ensembl chr23:80,810,931...80,828,920 		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 chr23:80,693,192...80,719,261 JBrowse link
G ZNF879 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 chr23:80,779,700...80,790,970 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    syndrome 10459
      Ehlers-Danlos syndrome 260
        Ehlers-Danlos Syndrome Type 7 69
          Ehlers-Danlos syndrome dermatosparaxis type 64
Path 2
Term Annotations click to browse term
  disease 15416
    Pathological Conditions, Signs and Symptoms 12061
      Signs and Symptoms 10141
        Neurologic Manifestations 9818
          sensory system disease 6936
            skin disease 4058
              Genetic Skin Diseases 1850
                Ehlers-Danlos syndrome 260
                  Ehlers-Danlos Syndrome Type 7 69
                    Ehlers-Danlos syndrome dermatosparaxis type 64
paths to the root