ZFIN Human Disease: junctional epidermolysis bullosa Herlitz type

OBO ID: DOID:0060737

Term Name:	junctional epidermolysis bullosa Herlitz type		Search Ontology:
Synonyms:	epidermolysis bullosa letalis Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type
Definition:	A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (3)
References:	ICD10CM:Q81.1 OMIM:226700 ORDO:79404
Ontology:	Human Disease ( DOID:0060737 )

Relationships

is a type of:	autosomal recessive disease junctional epidermolysis bullosa autosomal recessive disease junctional epidermolysis bullosa Show first 5 Terms

OTHER junctional epidermolysis bullosa Herlitz type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LAMB3	lamb3	Epidermolysis bullosa, junctional 1B, severe	226700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None