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- B0bf8964ece03d85f48be0976e7cf0ad1 hasDbXref "NCIT:C126746" @default.
- B0bf8964ece03d85f48be0976e7cf0ad1 type Axiom @default.
- B0bf8964ece03d85f48be0976e7cf0ad1 annotatedProperty IAO_0000115 @default.
- B0bf8964ece03d85f48be0976e7cf0ad1 annotatedSource MONDO_0800044 @default.
- B0bf8964ece03d85f48be0976e7cf0ad1 annotatedTarget "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." @default.