Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1bbca97db0f26683dfb71ea8a7f6983d> ?p ?o ?g. }
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- B1bbca97db0f26683dfb71ea8a7f6983d hasDbXref "https://github.com/monarch-initiative/mondo/issues/1737" @default.
- B1bbca97db0f26683dfb71ea8a7f6983d type Axiom @default.
- B1bbca97db0f26683dfb71ea8a7f6983d annotatedProperty IAO_0000115 @default.
- B1bbca97db0f26683dfb71ea8a7f6983d annotatedSource MONDO_0001676 @default.
- B1bbca97db0f26683dfb71ea8a7f6983d annotatedTarget "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." @default.