Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B20518bcfba409626fd36040078603371> ?p ?o ?g. }
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- B20518bcfba409626fd36040078603371 hasDbXref "Orphanet:773" @default.
- B20518bcfba409626fd36040078603371 type Axiom @default.
- B20518bcfba409626fd36040078603371 annotatedProperty IAO_0000115 @default.
- B20518bcfba409626fd36040078603371 annotatedSource MONDO_0009958 @default.
- B20518bcfba409626fd36040078603371 annotatedTarget "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." @default.