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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:epidermolysis bullosa simplex
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Accession:DOID:4644 term browser browse the term
Definition:A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
Synonyms:exact_synonym: Epidermolysis Bullosa Simplex, Cockayne Touraine Type;   Epidermolysis Bullosa Simplices
 narrow_synonym: Epidermolysis bullosa, simplex, PLEC;   Epidermolysis bullosa, simplex, PLEC-related
 primary_id: MESH:D016110
 alt_id: OMIA:002080;   RDO:0000628
 xref: GARD:10752;   NCI:C84692;   ORDO:304
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
epidermolysis bullosa simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISS OMIM:601001 | OMIM:615425 MouseDO NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt14 keratin 14 susceptibility ISO DNA:point mutations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa simplex
CTD
ClinVar
PMID:1717157, PMID:10583131, PMID:11331879, PMID:20151404, PMID:25326635, PMID:25741868, PMID:1717157 RGD:1600173 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7520042, PMID:7682695, PMID:8807337, PMID:16465624, PMID:20199538, PMID:21375516, PMID:25741868, PMID:28492532, PMID:30311386, PMID:1372711 RGD:1600195 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Plec plectin ISO DNA:deletions: ; 2719de19, 5866delC; associated with muscular dystrophies RGD PMID:8894687 RGD:1599911 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara ClinVar
OMIM
PMID:1717157, PMID:9804355, PMID:10583131, PMID:10730767, PMID:10733662, PMID:11331879, PMID:16098032, PMID:20151404, PMID:25326635, PMID:25741868 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa herpetiformis, Dowling-Meara
ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma
ClinVar
OMIM
PMID:1372711, PMID:7520042, PMID:8757772, PMID:8807337, PMID:10234505, PMID:10383750, PMID:10730767, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868, PMID:27798626, PMID:27889062 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar
OMIM
PMID:1703046, PMID:1720261, PMID:7682883 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
ClinVar Annotator: match by term: Generalized EBS
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis
ClinVar
OMIM
PMID:1718160, PMID:7520042, PMID:7534039, PMID:7686424, PMID:8807337, PMID:9740251, PMID:11407988, PMID:11407989, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex localized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:12485428 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7506606, PMID:7561171, PMID:9284105 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex OMIM
ClinVar
PMID:7520042, PMID:7537780, PMID:7688477, PMID:8807337, PMID:11973334, PMID:12648226, PMID:16098032, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type
ClinVar Annotator: match by OMIM:131950
OMIM
ClinVar
PMID:11851880, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema OMIM
ClinVar
PMID:7520042, PMID:8807337, PMID:12925204, PMID:15324323, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex with mottled pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation
OMIM
ClinVar
PMID:2476664, PMID:7520042, PMID:8799157, PMID:8807337, PMID:9129237, PMID:10494094, PMID:11167681, PMID:20923750, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,643,976...117,661,789
Ensembl chr 7:117,643,206...117,661,845
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,514,529...117,538,342
Ensembl chr 7:117,514,533...117,538,342
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,390,302...117,393,044
Ensembl chr 7:117,390,285...117,393,719
JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,602,056...117,604,954
Ensembl chr 7:117,602,041...117,605,141
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,304,742...117,307,916
Ensembl chr 7:117,304,742...117,307,916
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,434,419...117,437,208
Ensembl chr 7:117,434,419...117,437,205
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,417,643...117,420,722
Ensembl chr 7:117,417,687...117,420,719
JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,445,191...117,472,418
Ensembl chr 7:117,445,144...117,514,612
JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,353,951...117,394,205
Ensembl chr 7:117,353,786...117,369,159
JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:226670
OMIM
ClinVar
PMID:8696340, PMID:8830774, PMID:8894687, PMID:10446808, PMID:10652002, PMID:15654962, PMID:15810881, PMID:18414213, PMID:19945614, PMID:20052759, PMID:20665883, PMID:21109228, PMID:21263134, PMID:23289980, PMID:23774525, PMID:24033266, PMID:25454730, PMID:25556389, PMID:25741868, PMID:25987458, PMID:26467025, PMID:27392081, PMID:27766310, PMID:28447722, PMID:28492532, PMID:29050564, PMID:29797489, PMID:30311386, PMID:31319225 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,583,453...117,587,103
Ensembl chr 7:117,583,453...117,587,103
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,519,075...117,521,093
Ensembl chr 7:117,519,075...117,521,093
JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,413,151...117,417,455
Ensembl chr 7:117,413,152...117,417,363
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,326,279...117,349,957
Ensembl chr 7:117,326,279...117,349,957
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,599,001...117,601,894 JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,688,397...117,703,139
Ensembl chr 7:117,688,397...117,703,094
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY ClinVar PMID:28492532 NCBI chr 7:117,684,339...117,688,187
Ensembl chr 7:117,684,339...117,688,187
JBrowse link
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr19:34,138,978...34,406,593
Ensembl chr19:34,139,997...34,402,436
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr16:81,008,177...81,034,869
Ensembl chr16:81,587,446...81,614,553
Ensembl chr16:81,587,446...81,614,553
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 2:193,626,283...193,639,848
Ensembl chr 2:193,627,243...193,634,181
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar
PMID:25712130, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:117,599,001...117,601,894 JBrowse link
Epidermolysis Bullosa Simplex with Pyloric Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO ClinVar Annotator: match by term: EBS WITH PYLORIC ATRESIA
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612138
OMIM
ClinVar
PMID:14675180, PMID:15654962, PMID:15681471, PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
Epidermolysis Bullosa Simplex, Autosomal Recessive 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
ClinVar Annotator: match by OMIM:601001
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7525407, PMID:7525408, PMID:7526933, PMID:7561171, PMID:8875963, PMID:9284105, PMID:10971341, PMID:25741868, PMID:28492532 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive
OMIM
ClinVar
PMID:7520042, PMID:8807337, PMID:11973334, PMID:25741868, PMID:30311386 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2
ClinVar Annotator: match by OMIM:615425
OMIM
ClinVar
PMID:20164846, PMID:22113475, PMID:24033266, PMID:25059916, PMID:25741868, PMID:28492532 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss ClinVar
OMIM
PMID:25741868, PMID:27798626, PMID:27889062 NCBI chr11:84,613,101...84,643,674
Ensembl chr11:84,615,760...84,633,504
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        Skin Abnormalities 658
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              Epidermolysis Bullosa Simplex Superficialis 0
              Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 1
              Epidermolysis Bullosa Simplex with Nail Dystrophy 10
              Epidermolysis Bullosa Simplex with Pyloric Atresia 1
              Epidermolysis Bullosa Simplex, Autosomal Recessive 1 3
              Epidermolysis Bullosa Simplex, Autosomal Recessive 2 1
              Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
              epidermolysis bullosa simplex Dowling-Meara type 2
              epidermolysis bullosa simplex Ogna type 1
              epidermolysis bullosa simplex generalized type + 3
              epidermolysis bullosa simplex localized type 3
              epidermolysis bullosa simplex with mottled pigmentation 1
              epidermolysis bullosa simplex with muscular dystrophy 28
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Skin Abnormalities 658
              epidermolysis bullosa 57
                epidermolysis bullosa simplex 42
                  Epidermolysis Bullosa Simplex Superficialis 0
                  Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 1
                  Epidermolysis Bullosa Simplex with Nail Dystrophy 10
                  Epidermolysis Bullosa Simplex with Pyloric Atresia 1
                  Epidermolysis Bullosa Simplex, Autosomal Recessive 1 3
                  Epidermolysis Bullosa Simplex, Autosomal Recessive 2 1
                  Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
                  epidermolysis bullosa simplex Dowling-Meara type 2
                  epidermolysis bullosa simplex Ogna type 1
                  epidermolysis bullosa simplex generalized type + 3
                  epidermolysis bullosa simplex localized type 3
                  epidermolysis bullosa simplex with mottled pigmentation 1
                  epidermolysis bullosa simplex with muscular dystrophy 28
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.