junctional epidermolysis bullosa Herlitz type Disease Ontology Browser

Disease Ontology Browser

junctional epidermolysis bullosa Herlitz type (DOID:0060737)
Alliance: disease page
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
Alt IDs: OMIM:226700, ICD10CM:Q81.1, ORDO:79404
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.

Disease References using Mouse Models (5)

Allelic Composition	Genetic Background	Reference	Phenotypes
Itga6tm1Egl/Itga6tm1Egl	either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1)	J:33712	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Lamb3IAP/Lamb3IAP	involves: C3H * C57BL/6	J:42382	View
Lamb3tm1.1Hosc/Lamb3tm1.1Hosc	involves: 129S4/SvJae * C57BL/6	J:218616	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Lamc2tm1Uit/Lamc2tm1Uit	involves: C57BL/6	J:85981	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/18/2025 MGI 6.24