Reverse query / human → dog
recessive dystrophic epidermolysis bullosa.
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Which dogs are a natural model of this human disease. Each row is a distinct gene pathway with a canine model, ranked by evidence strength. We assert the canine disease models the human one (gene-level), never that a dog allele equals a human variant.
| Canine model pathway | Evidence | Ortholog | Human anchor | Canine variant · assembly |
|---|---|---|---|---|
| COL7A1 → COL7A1 OMIA model-of | OMIA-anchored | one_to_one | — | gene-level (no single variant) |
The boundary of this model. The rows above are the characterized
pathways, human genes of this disease with a canine model in our substrate.
We do not hold a GenCC established-gene panel for this specific Mondo id, so the full gene landscape is not enumerated here; we show the canine models we hold and do not imply full coverage.