Autosomal dominant disorders :
(Mnemonic : vo familial hypercholesterolemia autosomal dominant hai)
Vo – Von willebrand disease
Familial – Familial adenomatous polyposis
Hypercholesterolemia – hypercholesterolemia (familial)
Autosomal – Adult polycystic kidney
D – Dystrophia myotonica
O – Osteogenesis imperfecta
M – Marfan syndrome
I – Intermittent porphyria
N – Neurofibromatosis
A – Achondroplasia
T – Tuberous sclerosis
Hai – Huntington’s disease, Hereditady spherocytosis
Autosomal recessive disorders :
(Mnemonic : Fried Poori aur Garam chawal mast hai)
Fried – Friedrich’s ataxia
Poori aur – Phenylketonuria
Garam – Galactosemia
C – Cystic fibrosis
H – Hemochromatosis
A – Alpha 1 antitrypsin deficiency
W – Wilson’s disease
A – Alkaptonuria
L – Lysosomal and glycogen storage diseases
M – Muscular atrophy
A – Adrenal hyperplasia
S – Sickle cell disease
T – Thalassemia
Hai – Homocystinuria