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- Bbea23c66afa3fb8122da5a3fe18991e5 NCIT_P378 "NICHD" @default.
- Bbea23c66afa3fb8122da5a3fe18991e5 type Axiom @default.
- Bbea23c66afa3fb8122da5a3fe18991e5 annotatedProperty NCIT_P325 @default.
- Bbea23c66afa3fb8122da5a3fe18991e5 annotatedSource NCIT_C84611 @default.
- Bbea23c66afa3fb8122da5a3fe18991e5 annotatedTarget "Spongy degeneration of central nervous system, spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy." @default.