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- B5d72d4499458bc3e5d03c7bd2bb76db8 hasDbXref "Orphanet:306511" @default.
- B5d72d4499458bc3e5d03c7bd2bb76db8 type Axiom @default.
- B5d72d4499458bc3e5d03c7bd2bb76db8 annotatedProperty IAO_0000115 @default.
- B5d72d4499458bc3e5d03c7bd2bb76db8 annotatedSource MONDO_0013342 @default.
- B5d72d4499458bc3e5d03c7bd2bb76db8 annotatedTarget "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." @default.