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- B115536555d9ee8d268c6a571b97f22a5 hasDbXref "NCIT:P378" @default.
- B115536555d9ee8d268c6a571b97f22a5 type Axiom @default.
- B115536555d9ee8d268c6a571b97f22a5 annotatedProperty IAO_0000115 @default.
- B115536555d9ee8d268c6a571b97f22a5 annotatedSource MONDO_0001734 @default.
- B115536555d9ee8d268c6a571b97f22a5 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.