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- B8200622f984f9d528bc90c2e6253eff2 hasDbXref "Orphanet:468661" @default.
- B8200622f984f9d528bc90c2e6253eff2 type Axiom @default.
- B8200622f984f9d528bc90c2e6253eff2 annotatedProperty IAO_0000115 @default.
- B8200622f984f9d528bc90c2e6253eff2 annotatedSource MONDO_0014644 @default.
- B8200622f984f9d528bc90c2e6253eff2 annotatedTarget "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." @default.