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- Bc8734af1dfbf1a665dee90f8922bb984 hasDbXref "Orphanet:167" @default.
- Bc8734af1dfbf1a665dee90f8922bb984 type Axiom @default.
- Bc8734af1dfbf1a665dee90f8922bb984 annotatedProperty IAO_0000115 @default.
- Bc8734af1dfbf1a665dee90f8922bb984 annotatedSource MONDO_0008963 @default.
- Bc8734af1dfbf1a665dee90f8922bb984 annotatedTarget "ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described." @default.