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- Bb8689da29943a43337af12f637c9969f hasDbXref "Orphanet:268861" @default.
- Bb8689da29943a43337af12f637c9969f type Axiom @default.
- Bb8689da29943a43337af12f637c9969f annotatedProperty IAO_0000115 @default.
- Bb8689da29943a43337af12f637c9969f annotatedSource MONDO_0017086 @default.
- Bb8689da29943a43337af12f637c9969f annotatedTarget "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated." @default.