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- B86f088dd5a576f81768eb35d9f224559 hasDbXref "Orphanet:320370" @default.
- B86f088dd5a576f81768eb35d9f224559 type Axiom @default.
- B86f088dd5a576f81768eb35d9f224559 annotatedProperty IAO_0000115 @default.
- B86f088dd5a576f81768eb35d9f224559 annotatedSource MONDO_0014024 @default.
- B86f088dd5a576f81768eb35d9f224559 annotatedTarget "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." @default.