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- Bf15e356c8f8b16a5e7969b593b6d9015 hasDbXref "NCIT:C84902" @default.
- Bf15e356c8f8b16a5e7969b593b6d9015 type Axiom @default.
- Bf15e356c8f8b16a5e7969b593b6d9015 annotatedProperty IAO_0000115 @default.
- Bf15e356c8f8b16a5e7969b593b6d9015 annotatedSource MONDO_0009660 @default.
- Bf15e356c8f8b16a5e7969b593b6d9015 annotatedTarget "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." @default.