Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619784 http://purl.bioontology.org/ontology/OMIM/619784
Preferred Name	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE
Synonyms	JEB2B EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, GENERALIZED SEVERE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JEB2B EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, GENERALIZED SEVERE
prefLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE
Gene Symbol	JEB2B LOCS JEB2C JEB2A LAMA3
Scope Statement	Caused by mutation in laminin, alpha-3 (LAMA3, 600805.0001) [MOLECULAR BASIS] Death in early infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075655 http://purl.bioontology.org/ontology/OMIM/MTHU076008 http://purl.bioontology.org/ontology/OMIM/MTHU020183 http://purl.bioontology.org/ontology/OMIM/MTHU075639 http://purl.bioontology.org/ontology/OMIM/MTHU076007 http://purl.bioontology.org/ontology/OMIM/MTHU075634 http://purl.bioontology.org/ontology/OMIM/MTHU076005 http://purl.bioontology.org/ontology/OMIM/MTHU076009 http://purl.bioontology.org/ontology/OMIM/MTHU076006 http://purl.bioontology.org/ontology/OMIM/MTHU075650 http://purl.bioontology.org/ontology/OMIM/MTHU013125 See more See less
tui	T047
Gene Locus	18q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619784
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5676937
OMIM Entry Type	3
OMIM MimType Value	pound

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