Non-syndromic congenital phagocyte functional defect
ORPHA:674896Congenital functional phagocyte defect
ORPHA:183681Isolated constitutional thrombocytopenia
ORPHA:477797Non-syndromic limb reduction defect
ORPHA:93457Non-syndromic longitudinal limb defect
ORPHA:498457Syndrome with congenital phagocyte functional defect as a major feature
ORPHA:674648Syndromic constitutional thrombocytopenia
ORPHA:477794