Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4abe39c2c5915c534fa1f0592d917587> ?p ?o ?g. }
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- B4abe39c2c5915c534fa1f0592d917587 hasDbXref "Orphanet:268838" @default.
- B4abe39c2c5915c534fa1f0592d917587 type Axiom @default.
- B4abe39c2c5915c534fa1f0592d917587 annotatedProperty IAO_0000115 @default.
- B4abe39c2c5915c534fa1f0592d917587 annotatedSource MONDO_0017084 @default.
- B4abe39c2c5915c534fa1f0592d917587 annotatedTarget "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." @default.