Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B68f8f39c1d65158211ca7b9d8816b6f9> ?p ?o ?g. }
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- B68f8f39c1d65158211ca7b9d8816b6f9 hasDbXref "Orphanet:773" @default.
- B68f8f39c1d65158211ca7b9d8816b6f9 type Axiom @default.
- B68f8f39c1d65158211ca7b9d8816b6f9 annotatedProperty IAO_0000115 @default.
- B68f8f39c1d65158211ca7b9d8816b6f9 annotatedSource MONDO_0009958 @default.
- B68f8f39c1d65158211ca7b9d8816b6f9 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.