RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz