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- Bf589028831e3a51b41803a71bf0778f5 NCIT_P378 "NCI" @default.
- Bf589028831e3a51b41803a71bf0778f5 type Axiom @default.
- Bf589028831e3a51b41803a71bf0778f5 annotatedProperty IAO_0000115 @default.
- Bf589028831e3a51b41803a71bf0778f5 annotatedSource NCIT_C36529 @default.
- Bf589028831e3a51b41803a71bf0778f5 annotatedTarget "A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities." @default.