Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4b4d5751f665a2197603720405b9fe02> ?p ?o ?g. }
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- B4b4d5751f665a2197603720405b9fe02 hasDbXref "Orphanet:67046" @default.
- B4b4d5751f665a2197603720405b9fe02 type Axiom @default.
- B4b4d5751f665a2197603720405b9fe02 annotatedProperty IAO_0000115 @default.
- B4b4d5751f665a2197603720405b9fe02 annotatedSource MONDO_0009610 @default.
- B4b4d5751f665a2197603720405b9fe02 annotatedTarget "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia." @default.