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- B17290c4b34561f4af3506ccaaf19c669 NCIT_P378 "NCI" @default.
- B17290c4b34561f4af3506ccaaf19c669 type Axiom @default.
- B17290c4b34561f4af3506ccaaf19c669 annotatedProperty IAO_0000115 @default.
- B17290c4b34561f4af3506ccaaf19c669 annotatedSource NCIT_C74983 @default.
- B17290c4b34561f4af3506ccaaf19c669 annotatedTarget "A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects." @default.