Genetic disorders with mnemonics

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

TThalassemia

Hai – Homocystinuria

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