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- Bfb2e02e9970f46c5e9647d678a572661 hasDbXref "Orphanet:2575" @default.
- Bfb2e02e9970f46c5e9647d678a572661 type Axiom @default.
- Bfb2e02e9970f46c5e9647d678a572661 annotatedProperty IAO_0000115 @default.
- Bfb2e02e9970f46c5e9647d678a572661 annotatedSource MONDO_0009062 @default.
- Bfb2e02e9970f46c5e9647d678a572661 annotatedTarget "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." @default.