Genetic disorders with mnemonics – Dentowesome

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