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- Be2159c4a161b7417551a536a9aa63353 hasDbXref "Orphanet:765" @default.
- Be2159c4a161b7417551a536a9aa63353 type Axiom @default.
- Be2159c4a161b7417551a536a9aa63353 annotatedProperty IAO_0000115 @default.
- Be2159c4a161b7417551a536a9aa63353 annotatedSource MONDO_0019169 @default.
- Be2159c4a161b7417551a536a9aa63353 annotatedTarget "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency." @default.