Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bd31d307f4f6b553596ab298817498f3c> ?p ?o ?g. }
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- Bd31d307f4f6b553596ab298817498f3c hasDbXref "Orphanet:254803" @default.
- Bd31d307f4f6b553596ab298817498f3c type Axiom @default.
- Bd31d307f4f6b553596ab298817498f3c annotatedProperty IAO_0000115 @default.
- Bd31d307f4f6b553596ab298817498f3c annotatedSource MONDO_0016796 @default.
- Bd31d307f4f6b553596ab298817498f3c annotatedTarget "Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features." @default.