Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM *250250)
Fryns
J P
JP
D000293:Adolescent; D002356:Cartilage / Q000002:abnormalities*; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000235:genetics*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D006971:Hypersplenism / Q000150:complications / Q000175:diagnosis*; D006975:Hypertension, Portal / Q000150:complications*; D008297:Male; D011169:Portal Vein; D020246:Venous Thrombosis / Q000150:complications*