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Hereditary thrombocytosis with transverse limb defect
rareThrombocythemia 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.
- Identifiers
- MONDO:0018000 Orphanet:329319
- Part of
- Congenital hematological disorderCongenital limb malformationDysostosisInherited blood coagulation disorder
- Also known as
- familial thrombocytosis with transverse limb defect
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