Lethal acantholytic epidermolysis bullosa

Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters
rdfs:label
"Lethal acantholytic epidermolysis bullosa"@en
skos:altLabel "EBLA"@en
"EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC"@en
"EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA"@en
"LAEB"@en
"Lethal Acantholytic Epidermolysis Bullosa"@en
schema:description "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters"@en
schema:dateModified "2026-10-23T23:27:20+00:00"^^xsd:dateTime
schema:version 2560154831
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535493>
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wdt:P11430 "DI-00459"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D158687"
wdt:P1550 "158687"
wdt:P1995 dermatology
wdt:P2293 DSP
JUP
wdt:P279 suprabasal epidermolysis bullosa simplex
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_158687>
wdt:P2892 "C1864826"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q81.0"
wdt:P4317 "9910"
wdt:P486 "C535493"
wdt:P492 "609638"
wdt:P5270 "MONDO_0012323"
wdt:P6366 "2776003480"
wdt:P6532 oligohydramnios
Absent toenail
Absent fingernail
Camptodactyly of toe
Congenital alopecia totalis
aplasia cutis congenita
intrauterine growth restriction
cardiomegaly
cleft palate
hypovolemic shock
alopecia totalis
teeth present at birth
respiratory failure
cardiomyopathy
wdt:P7807 "2082436712"
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