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- Bcb5662c41d81a51cfec482d7db261b4d hasDbXref "Orphanet:765" @default.
- Bcb5662c41d81a51cfec482d7db261b4d type Axiom @default.
- Bcb5662c41d81a51cfec482d7db261b4d annotatedProperty IAO_0000115 @default.
- Bcb5662c41d81a51cfec482d7db261b4d annotatedSource MONDO_0019169 @default.
- Bcb5662c41d81a51cfec482d7db261b4d 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.