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rdfs:label
|
"Epidermólise bolhosa generalizada simples autossômica dominante, forma grave"@pt
"Epidermólise bolhosa generalizada simples autossômica dominante, forma grave"@pt-br
"epidermolysis bullosa herpetiformis"@en
"épidermolyse bulleuse herpétiforme type Dowling-Meara"@fr
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skos:altLabel
|
"Dowling-Meara type epidermolysis bullosa simplex"@en
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|
"EBS-DM"@en
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|
"EBS-gen sev"@en
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|
"EBSDM"@en
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|
"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE"@en
|
|
"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM"@en
|
|
"Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type"@en
|
|
"Epidermolysis Bullosa Simplex, Generalized Severe"@en
|
|
"epidermolysis bullosa herpetiformis Dowling-Meara type"@en
|
|
"epidermolysis bullosa simplex Dowling-Meara type"@en
|
|
"epidermolysis bullosa simplex, herpetiformis"@en
|
|
"generalized severe epidermolysis bullosa simplex"@en
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|
schema:description
|
"Human disease"@en
"Krankheit"@de
"хвороба людини"@uk
"մարդու հիվանդություն"@hy
"مرض يصيب الإنسان"@ar
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|
schema:dateModified
|
"2026-10-24T00:36:30+00:00"^^xsd:dateTime
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|
schema:version
|
2560167290
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|
wikibase:identifiers
|
9
|
|
wikibase:sitelinks
|
1
|
|
wikibase:statements
|
41
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|
p:P1193
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wd:statement/Q5382846-925441C0-A797-4AF7-9CBD-19C24CD58B60
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p:P14914
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wd:statement/Q5382846-4B56BA2F-5BDA-4560-A3C0-3879F55E5BB3
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|
p:P1550
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wd:statement/Q5382846-B2EFA023-9586-4AB8-8ABC-C3BAFBF377A8
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p:P1692
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wd:statement/Q5382846-378F095B-2822-42C8-8BAE-0E7BD5C41ABA
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p:P1995
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wd:statement/Q5382846-C2B4F7E1-70EB-4B17-901A-EE0B860778BB
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|
p:P2293
|
wd:statement/Q5382846-096FF71B-92D6-4C80-8D4E-9472459CB3CF
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|
wd:statement/Q5382846-8203A320-F042-48A6-A85A-7A8AC658377E
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|
p:P279
|
wd:statement/Q5382846-3F886F33-C3B0-4A17-B6A1-06A9664B1913
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|
wd:statement/Q5382846-7F4A41F6-CD12-4947-AB10-BC0A584DCF47
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wd:statement/Q5382846-952C2E99-DE5E-4605-93E9-E1F512946BF1
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|
wd:statement/Q5382846-BC72CDE3-16D1-4FB5-873E-DB57AF0702FF
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|
p:P2841
|
wd:statement/Q5382846-3BCE2BA9-38E8-42BA-8321-11CF887D99A5
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p:P2888
|
wd:statement/Q5382846-24905223-8CBA-4C3D-9DBB-41EEC2847DB0
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|
wd:statement/Q5382846-2AD65418-70B1-423F-99CE-0FD1319807BB
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wd:statement/Q5382846-F27843F3-AF81-4E22-B0FF-FB37AE01EF2B
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p:P2892
|
wd:statement/Q5382846-D2783DFC-7F60-4BDB-8676-9AC1BB2D0830
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|
p:P31
|
wd:statement/Q5382846-5A690DD1-961F-4126-85DE-61EDECD79767
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|
p:P4229
|
wd:statement/Q5382846-6D715504-1AC7-4055-ABAA-3CF0AC1894A3
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p:P4317
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wd:statement/Q5382846-F9CE95CE-BA53-49E1-A50D-7C8EAF73D092
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p:P492
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wd:statement/Q5382846-E4CF1B7E-1868-4F6F-9C7D-999F9C8CB4A1
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p:P5008
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wd:statement/Q5382846-B587BBD5-C794-4B45-8919-225413282384
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p:P5270
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wd:statement/Q5382846-A0584BB6-D9CD-472D-B9AC-94EC96D23711
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p:P557
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wd:statement/q5382846-24B064FE-D7C0-4E66-AF12-93C4675070F2
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p:P6532
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wd:statement/Q5382846-10C4B4C1-3872-4530-9AE5-72877BA3DB42
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wd:statement/Q5382846-339A9F5C-7FCF-470A-9D8D-3D8736A2CFD1
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wd:statement/Q5382846-36D88D19-B613-4E8F-A426-14B2C1EEDD24
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wd:statement/Q5382846-7FCB4E31-C3F6-4ECF-AE67-26D8339F4C75
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wd:statement/Q5382846-8648E53C-B024-4C31-8AB8-B0BB93C771A6
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wd:statement/Q5382846-89D0AA55-836A-46F0-BF68-E581FDBB9E61
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wd:statement/Q5382846-8F892A24-8FD7-4371-B016-D8468AE9935B
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wd:statement/Q5382846-9DA1F19E-9DC5-4399-BABE-4AA562BD7408
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wd:statement/Q5382846-9FBBF95D-67D1-48C3-8B75-03E46A00712C
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wd:statement/Q5382846-B17878F2-C7B2-4571-B8AA-90C6B42E950C
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wd:statement/Q5382846-B3E503F7-11EC-4295-8346-9EAE3B2D3D83
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|
wd:statement/Q5382846-B5201A23-7D03-4BCC-A8F5-5242595D6610
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|
wd:statement/Q5382846-B7B9AB8B-261B-4109-B336-2E6499212F27
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|
wd:statement/Q5382846-BE81095E-B3A3-4FED-BC58-B36A342EAEA7
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|
wd:statement/Q5382846-D648B088-A321-4732-BB60-375A761D4E86
|
|
wd:statement/Q5382846-E58DDA19-05A2-48B1-9444-953B08E49C9F
|
|
wd:statement/Q5382846-FD187A28-C6F9-402C-B420-01001F62E68A
|
|
p:P699
|
wd:statement/Q5382846-347FF128-B47D-4622-AD3A-EC1EC83B8209
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0007550>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0060735>
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D79396"
|
|
wdt:P1550
|
"79396"
|
|
wdt:P1692
|
"771.2"
|
|
wdt:P1995
|
medical genetics
|
|
wdt:P2293
|
KRT14
|
|
KRT5
|
|
wdt:P279
|
autosomal dominant disease
|
|
basal epidermolysis bullosa simplex
|
|
wdt:P2841
|
neonatal onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0060735>
|
|
<http://purl.obolibrary.org/obo/DOID_0060735>
|
|
<http://www.orpha.net/ORDO/Orphanet_79396>
|
|
wdt:P2892
|
"C0079295"
|
|
wdt:P31
|
type of disease
|
|
wdt:P4229
|
"Q81.0"
|
|
wdt:P4317
|
"2141"
|
|
wdt:P492
|
"131760"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0007550"
|
|
wdt:P557
|
"33248"
|
|
wdt:P6532
|
leukoderma
|
|
feeding difficulties
|
|
cigarette-paper scars
|
|
erythema
|
|
aplasia cutis congenita
|
|
failure to thrive
|
|
hypoalbuminemia
|
|
Ventriculomegaly
|
|
sepsis
|
|
scar
|
|
global developmental delay
|
|
alopecia
|
|
photophobia
|
|
bronchomalacia
|
|
cutaneous squamous-cell carcinoma
|
|
laryngomalacia
|
|
dysphonia
|
|
wdt:P699
|
"DOID:0060735"
|