Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619786 http://purl.bioontology.org/ontology/OMIM/619786
Preferred Name	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE
Synonyms	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE JEB3B EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, GENERALIZED SEVERE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, HERLITZ TYPE JEB3B EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, GENERALIZED SEVERE
prefLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE
Gene Symbol	LAMB2T LAMNB2 JEB3B JEB3A LAMC2
Scope Statement	Caused by mutation in laminin, gamma-2 (LAMC2, 150292.0001) [MOLECULAR BASIS] Death in early infancy to early adulthood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075633 http://purl.bioontology.org/ontology/OMIM/MTHU075639 http://purl.bioontology.org/ontology/OMIM/MTHU076014 http://purl.bioontology.org/ontology/OMIM/MTHU076007 http://purl.bioontology.org/ontology/OMIM/MTHU075634 http://purl.bioontology.org/ontology/OMIM/MTHU076012 http://purl.bioontology.org/ontology/OMIM/MTHU076011 http://purl.bioontology.org/ontology/OMIM/MTHU075650 http://purl.bioontology.org/ontology/OMIM/MTHU076013 See more See less
tui	T047
Gene Locus	1q25-q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619786
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5676939
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display