Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8df40a8b73c83faa455c896cf0456ff6> ?p ?o ?g. }
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- B8df40a8b73c83faa455c896cf0456ff6 hasDbXref "NCIT:P378" @default.
- B8df40a8b73c83faa455c896cf0456ff6 type Axiom @default.
- B8df40a8b73c83faa455c896cf0456ff6 annotatedProperty IAO_0000115 @default.
- B8df40a8b73c83faa455c896cf0456ff6 annotatedSource MONDO_0004737 @default.
- B8df40a8b73c83faa455c896cf0456ff6 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.