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- B32f8ef5bef32bb04aa016768ce1df757 hasDbXref "https://orcid.org/0000-0002-5655-9589" @default.
- B32f8ef5bef32bb04aa016768ce1df757 type Axiom @default.
- B32f8ef5bef32bb04aa016768ce1df757 annotatedProperty IAO_0000115 @default.
- B32f8ef5bef32bb04aa016768ce1df757 annotatedSource MONDO_0100463 @default.
- B32f8ef5bef32bb04aa016768ce1df757 annotatedTarget "An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders." @default.