Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Preferred Label : Epidermolysis Bullosa Dystrophica, Autosomal Dominant;

NCIt synonyms : DDEB; Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa;

NCIt definition : An autosomal dominant allelic variant of epidermolysis bullosa dystrophica caused by heterozygous mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.;

Details

Origin ID

C205633;

Has associated anatomic sites
- Integumentary System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
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- Skin [NCIt concept]
disease_mapped_to_gene
- COL7A1 Gene [NCIt concept]

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