Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
Synonyms

EBLA

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

LAEB
ID

http://purl.bioontology.org/ontology/OMIM/609638
altLabel

EBLA

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

LAEB
cui

C1864826
Gene Locus

6p24
Gene Symbol

PPKS2

KPPS2

DSP

DCWHKTA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU046209

http://purl.bioontology.org/ontology/OMIM/MTHU020184

http://purl.bioontology.org/ontology/OMIM/MTHU020175

http://purl.bioontology.org/ontology/OMIM/MTHU046202

http://purl.bioontology.org/ontology/OMIM/MTHU020179

http://purl.bioontology.org/ontology/OMIM/MTHU046206

http://purl.bioontology.org/ontology/OMIM/MTHU046208

http://purl.bioontology.org/ontology/OMIM/MTHU020178

http://purl.bioontology.org/ontology/OMIM/MTHU020180

http://purl.bioontology.org/ontology/OMIM/MTHU020174

http://purl.bioontology.org/ontology/OMIM/MTHU046199

http://purl.bioontology.org/ontology/OMIM/MTHU020183

http://purl.bioontology.org/ontology/OMIM/MTHU046200

http://purl.bioontology.org/ontology/OMIM/MTHU046207

http://purl.bioontology.org/ontology/OMIM/MTHU046197

http://purl.bioontology.org/ontology/OMIM/MTHU020181

http://purl.bioontology.org/ontology/OMIM/MTHU020176

http://purl.bioontology.org/ontology/OMIM/MTHU046205

http://purl.bioontology.org/ontology/OMIM/MTHU046204

http://purl.bioontology.org/ontology/OMIM/MTHU068708

http://purl.bioontology.org/ontology/OMIM/MTHU022140

http://purl.bioontology.org/ontology/OMIM/MTHU004144

http://purl.bioontology.org/ontology/OMIM/MTHU003746

http://purl.bioontology.org/ontology/OMIM/MTHU046201

http://purl.bioontology.org/ontology/OMIM/MTHU032275

http://purl.bioontology.org/ontology/OMIM/MTHU045573

http://purl.bioontology.org/ontology/OMIM/MTHU020177

http://purl.bioontology.org/ontology/OMIM/MTHU068707

http://purl.bioontology.org/ontology/OMIM/MTHU046203

http://purl.bioontology.org/ontology/OMIM/MTHU046198

http://purl.bioontology.org/ontology/OMIM/MTHU020182
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

609638
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
Scope Statement

Caused by mutation in the desmoplakin gene (DSP, 125647.0008) [MOLECULAR BASIS]

Neonatal death [MISCELLANEOUS]
tui

T047
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