Online Mendelian Inheritance in Man - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/226700 http://purl.bioontology.org/ontology/OMIM/226700
Preferred Name	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE
Synonyms	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE JEB-HERLITZ TYPE EPIDERMOLYSIS BULLOSA LETALIS HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA JEB1B EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE JEB-HERLITZ TYPE EPIDERMOLYSIS BULLOSA LETALIS HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA JEB1B EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE See more See less
prefLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE
Gene Symbol	JEB1B AI1A LAMB3 JEB1A
Scope Statement	Death usually before 36 months [MISCELLANEOUS] Caused by mutation in the laminin, beta-3 (LAMB3, 150310.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036684 http://purl.bioontology.org/ontology/OMIM/MTHU075633 http://purl.bioontology.org/ontology/OMIM/MTHU075632 http://purl.bioontology.org/ontology/OMIM/MTHU002179 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU020183 http://purl.bioontology.org/ontology/OMIM/MTHU075639 http://purl.bioontology.org/ontology/OMIM/MTHU075634 http://purl.bioontology.org/ontology/OMIM/MTHU057538 http://purl.bioontology.org/ontology/OMIM/MTHU075642 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU075643 http://purl.bioontology.org/ontology/OMIM/MTHU075644 http://purl.bioontology.org/ontology/OMIM/MTHU013125 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	1q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	226700
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0079683
OMIM Entry Type	3
OMIM MimType Value	pound

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