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- B6f113305735975ca07424ce656fc9479 hasDbXref "Orphanet:329319" @default.
- B6f113305735975ca07424ce656fc9479 type Axiom @default.
- B6f113305735975ca07424ce656fc9479 annotatedProperty IAO_0000115 @default.
- B6f113305735975ca07424ce656fc9479 annotatedSource MONDO_0018000 @default.
- B6f113305735975ca07424ce656fc9479 annotatedTarget "Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly." @default.