Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0eaf6943685493327ec18d9ebdbc4e97> ?p ?o ?g. }
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- B0eaf6943685493327ec18d9ebdbc4e97 hasDbXref "Orphanet:79408" @default.
- B0eaf6943685493327ec18d9ebdbc4e97 type Axiom @default.
- B0eaf6943685493327ec18d9ebdbc4e97 annotatedProperty IAO_0000115 @default.
- B0eaf6943685493327ec18d9ebdbc4e97 annotatedSource MONDO_0009179 @default.
- B0eaf6943685493327ec18d9ebdbc4e97 annotatedTarget "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." @default.