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- Bfa0553be77d41c175e9dc6bcd7fe3932 hasDbXref "Orphanet:90103" @default.
- Bfa0553be77d41c175e9dc6bcd7fe3932 type Axiom @default.
- Bfa0553be77d41c175e9dc6bcd7fe3932 annotatedProperty IAO_0000115 @default.
- Bfa0553be77d41c175e9dc6bcd7fe3932 annotatedSource MONDO_0008960 @default.
- Bfa0553be77d41c175e9dc6bcd7fe3932 annotatedTarget "A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease." @default.