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- B6e6b3b9e0dc37ee766ae5e376b31bf45 hasDbXref "Orphanet:100986" @default.
- B6e6b3b9e0dc37ee766ae5e376b31bf45 type Axiom @default.
- B6e6b3b9e0dc37ee766ae5e376b31bf45 annotatedProperty IAO_0000115 @default.
- B6e6b3b9e0dc37ee766ae5e376b31bf45 annotatedSource MONDO_0010047 @default.
- B6e6b3b9e0dc37ee766ae5e376b31bf45 annotatedTarget "Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients." @default.