Saturday, July 12, 2014

Genetics Mnemonics: Genetic Disease

Autosomal Recessive Disorders

A: albinism ,alpha 1 antitrypsin deficiency
B: beta thalassemia
C: cystic fibrosis,CGD,CAH
D: deafness(SNHL),dubin johnson
E: enzyme deficiencies(glycogen storage and lysosomal storage)
F: Friedrich's ataxia, fanconi anemia
G: G6PD,galactosemia
H: Hemochromatosis

S: Sickle cell disease
P: Phenylketonuria
w: Wilson's

Puetz-Jeghers Syndrome

PJ

P: Pigmented lips and oral mucosa
J: Jejunal polyps

No comments:

Post a Comment