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- Bcfd367e0d9e67cff0bc441f3ec04f9b1 NCIT_P378 "NCI" @default.
- Bcfd367e0d9e67cff0bc441f3ec04f9b1 type Axiom @default.
- Bcfd367e0d9e67cff0bc441f3ec04f9b1 annotatedProperty IAO_0000115 @default.
- Bcfd367e0d9e67cff0bc441f3ec04f9b1 annotatedSource NCIT_C164224 @default.
- Bcfd367e0d9e67cff0bc441f3ec04f9b1 annotatedTarget "An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the AP4B1 gene, encoding AP-4 complex subunit beta-1. It is characterized by severe mental retardation and spasticity." @default.