Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf6bca09bf6023aea813f1017bc91d85b> ?p ?o ?g. }
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- Bf6bca09bf6023aea813f1017bc91d85b hasDbXref "Orphanet:26" @default.
- Bf6bca09bf6023aea813f1017bc91d85b hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bf6bca09bf6023aea813f1017bc91d85b type Axiom @default.
- Bf6bca09bf6023aea813f1017bc91d85b annotatedProperty IAO_0000115 @default.
- Bf6bca09bf6023aea813f1017bc91d85b annotatedSource MONDO_0016826 @default.
- Bf6bca09bf6023aea813f1017bc91d85b 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.