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- B3b231121d9c0f943c9e3853e912fef86 hasDbXref "Orphanet:137681" @default.
- B3b231121d9c0f943c9e3853e912fef86 type Axiom @default.
- B3b231121d9c0f943c9e3853e912fef86 annotatedProperty IAO_0000115 @default.
- B3b231121d9c0f943c9e3853e912fef86 annotatedSource MONDO_0012191 @default.
- B3b231121d9c0f943c9e3853e912fef86 annotatedTarget "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement." @default.