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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)
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)
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11/12/2024
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