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 skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, localisata variant CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:226650 ClinVar Annotator: match by synonym: Epidermolysis bullosa, junctional, localisata variant
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE ClinVar Annotator: match by OMIM:226650
ClinVar Annotator: match by OMIM:226650 ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:226650