Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bac3b9a1d8a502ddd30e3ac16b7f3e568> ?p ?o ?g. }
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- Bac3b9a1d8a502ddd30e3ac16b7f3e568 hasDbXref "NCIT:P378" @default.
- Bac3b9a1d8a502ddd30e3ac16b7f3e568 type Axiom @default.
- Bac3b9a1d8a502ddd30e3ac16b7f3e568 annotatedProperty IAO_0000115 @default.
- Bac3b9a1d8a502ddd30e3ac16b7f3e568 annotatedSource MONDO_0004737 @default.
- Bac3b9a1d8a502ddd30e3ac16b7f3e568 annotatedTarget "An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems." @default.