Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf9092c38c0e50c8848924e90c335f3e2> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bf9092c38c0e50c8848924e90c335f3e2 hasDbXref "Orphanet:289504" @default.
- Bf9092c38c0e50c8848924e90c335f3e2 type Axiom @default.
- Bf9092c38c0e50c8848924e90c335f3e2 annotatedProperty IAO_0000115 @default.
- Bf9092c38c0e50c8848924e90c335f3e2 annotatedSource MONDO_0013661 @default.
- Bf9092c38c0e50c8848924e90c335f3e2 annotatedTarget "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." @default.