Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619783 http://purl.bioontology.org/ontology/OMIM/619783
Preferred Name	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE
Synonyms	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, GENERALIZED INTERMEDIATE JEB2A
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, GENERALIZED INTERMEDIATE JEB2A
prefLabel	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE
Gene Symbol	JEB2B LOCS JEB2C JEB2A LAMA3
Scope Statement	Caused by mutation in laminin, alpha-3 (LAMA3, 600805.0003) [MOLECULAR BASIS] Two patients have been reported (last curated May 2022) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU076004 http://purl.bioontology.org/ontology/OMIM/MTHU075652 http://purl.bioontology.org/ontology/OMIM/MTHU036507 http://purl.bioontology.org/ontology/OMIM/MTHU018430 http://purl.bioontology.org/ontology/OMIM/MTHU076003 http://purl.bioontology.org/ontology/OMIM/MTHU075650 http://purl.bioontology.org/ontology/OMIM/MTHU013142 See more See less
tui	T047
Gene Locus	18q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619783
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5676936
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display