hereditary thrombocytosis with transverse limb defect
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.
MONDO:0009332
congenital hematological disorder
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
familial thrombocytosis with transverse limb defect
exact