achondroplasia antithrombin III deficiency
C1
esterase inhibitor deficiency Ehlers-Danlos syndrome
Familial hypercholesterolaemia Gilbert's disease
hereditary haemorrhagic telangiectasia hereditary elliptocysis,
hereditary spherocytosis
Huntington's disease
idiopathic hypoparathyroidism
intestinal polyposis
marble bone disease Marfan's syndrome
neurofibromatosis
Peutz Jegher’s syndrome
polycystic kidney disease
(adult) protein C deficiency
osteogenesis imperfecta Treacher Collins
syndrome tuberous sclerosis
Von
Willebrand's disease
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