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- B0095ebc329ba5375d991751fc11da29a hasDbXref "Orphanet:26" @default.
- B0095ebc329ba5375d991751fc11da29a hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B0095ebc329ba5375d991751fc11da29a type Axiom @default.
- B0095ebc329ba5375d991751fc11da29a annotatedProperty IAO_0000115 @default.
- B0095ebc329ba5375d991751fc11da29a annotatedSource MONDO_0016826 @default.
- B0095ebc329ba5375d991751fc11da29a annotatedTarget "An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)." @default.