SHMARQL

localized epidermolysis bullosa simplex

<http://www.wikidata.org/entity/Q6664623>

epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet
rdfs:label
"localized epidermolysis bullosa simplex"@en
skos:altLabel
"EBS-loc"@en
"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED"@en
"Ebs, Acral Form"@en
"Epidermolysis Bullosa of Hands and Feet"@en
"Epidermolysis bullosa simplex of palms and soles"@en
"Epidermolysis bullosa simplex, Weber-Cockayne type"@en
"Weber-Cockayne epidermolysis bullosa simplex"@en
"Weber-Cockayne syndrome"@en
"Weber-Cockayne type epidermolysis bullosa simplex"@en
"epidermolysis bullosa simplex Weber-Cockayne type"@en
"epidermolysis bullosa simplex localized type"@en
schema:description "epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet"@en
schema:dateModified "2026-10-24T00:36:33+00:00"^^xsd:dateTime
schema:version 2560167297
wikibase:identifiers 8
wikibase:sitelinks 1
wikibase:statements 33
p:P1193 wd:statement/Q6664623-87593EF4-FEEA-4644-94B2-07697779429C
p:P14914 wd:statement/Q6664623-08483B8A-0EE6-46BC-8842-695FDA0D6E3E
p:P1550 wd:statement/Q6664623-ae725f17-4fac-2402-bc67-85d697937664
p:P1692 wd:statement/Q6664623-68C61DBD-73E7-4EEC-9AAC-7B4B2307B831
p:P2293 wd:statement/Q6664623-175D80E1-79AA-40CB-AD34-BD870D2CDE92
wd:statement/Q6664623-563DB437-FF06-4BB4-AAB7-BF7329582996
wd:statement/Q6664623-9E2CC048-D8CF-4744-8812-991D0C86460C
p:P279 wd:statement/Q6664623-30EFFA3B-C09B-4DE3-86D0-A286C59FB62C
wd:statement/Q6664623-AA0A1D65-08B1-4BA3-9C3A-A81B2E98D618
wd:statement/Q6664623-dfcf15ab-4ba6-bb45-f616-4bd11f60d995
p:P2841 wd:statement/Q6664623-740DEE46-D6D4-44BA-A70D-03A6C5C5F348
p:P2888 wd:statement/Q6664623-1D15E01D-784F-4903-BDBE-631A1D05482F
wd:statement/Q6664623-83E308D3-C46F-445C-B3DE-F7BBAF7AF3BD
p:P2892 wd:statement/Q6664623-067019A0-5FDF-4CFC-8949-B880E9680E2C
p:P31 wd:statement/Q6664623-4155EBF5-1364-40D1-A7B9-B83F272BAB0D
wd:statement/Q6664623-E011930F-56E6-400B-92C9-6ED883344A6D
p:P4229 wd:statement/Q6664623-F23EF944-5FB8-4B90-9036-0CD69DEFD142
p:P4317 wd:statement/Q6664623-EF2D432C-C13E-4531-B3B9-931F0674462A
p:P492 wd:statement/q6664623-3E9CA127-70BF-4A3F-B775-B9BF88D8F086
p:P5008 wd:statement/Q6664623-43660EC8-8E9F-4D76-A61E-20AC317B9688
p:P5270 wd:statement/Q6664623-0FE39870-D19B-4BAC-8CC8-E32A6E67CD7E
p:P6532 wd:statement/Q6664623-001EF941-C5C6-4ABB-AA2A-1D69A7D9F89F
wd:statement/Q6664623-180308AC-FE62-4BF0-B743-8D0FA6C4CFAF
wd:statement/Q6664623-220B4440-4CDC-44F4-B285-5D1CC49D99D9
wd:statement/Q6664623-48347CE7-4526-4841-942F-C7F7125308BC
wd:statement/Q6664623-5EDC2DAA-3671-4C47-86C3-CB51A442F58A
wd:statement/Q6664623-624DC2C2-6039-41CE-9960-1CF170165086
wd:statement/Q6664623-AAFB6936-CB7F-4E15-8FDF-17CB09CD6094
wd:statement/Q6664623-B2BF93C4-D529-42CC-83C4-0A86556B3DAE
wd:statement/Q6664623-BC1BB240-39BA-45C8-9E53-B475AF64A4F4
wd:statement/Q6664623-E619CF9C-3B06-46DC-9E16-142D5BC318D8
wd:statement/Q6664623-F079A57C-E5FF-4EE1-8A2B-67381061D572
p:P699 wd:statement/Q6664623-1485C7DC-E5D7-48CE-B87D-ABD331F963FF
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0007551>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080510>
wdt:P1193 0.000005^^xsd:decimal
wdt:P14914 "D79400"
wdt:P1550 "79400"
wdt:P1692 "757.39"
wdt:P2293 KRT14
KRT5
ITGB4
wdt:P279 autosomal dominant disease
basal epidermolysis bullosa simplex
wdt:P2841 childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:0080510>
<http://purl.obolibrary.org/obo/DOID_0080510>
wdt:P2892 "C0080333"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q81.0"
wdt:P4317 "2146"
wdt:P492 "131800"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0007551"
wdt:P6532 Abnormal blistering of the skin
cigarette-paper scars
Acute episodes of neuropathic symptoms
Focal friction-related palmoplantar hyperkeratosis
Plantar hyperkeratosis
Palmar hyperkeratosis
heat intolerance
itch
foot pain
paresthesia
skin plaque
wdt:P699 "DOID:0080510"
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