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- B0d34134c56f43ef376be67c80805e034 NCIT_P378 "NCI" @default.
- B0d34134c56f43ef376be67c80805e034 type Axiom @default.
- B0d34134c56f43ef376be67c80805e034 annotatedProperty IAO_0000115 @default.
- B0d34134c56f43ef376be67c80805e034 annotatedSource NCIT_C3424 @default.
- B0d34134c56f43ef376be67c80805e034 annotatedTarget "Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." @default.