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- B098927fb16d8a0ac854fad34b29d3a1c hasDbXref "Orphanet:79243" @default.
- B098927fb16d8a0ac854fad34b29d3a1c type Axiom @default.
- B098927fb16d8a0ac854fad34b29d3a1c annotatedProperty IAO_0000115 @default.
- B098927fb16d8a0ac854fad34b29d3a1c annotatedSource MONDO_0010717 @default.
- B098927fb16d8a0ac854fad34b29d3a1c annotatedTarget "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." @default.