Busy. Please wait.
or

Forgot Password?

Don't have an account?  Sign up 
or

taken
show password

why

Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.

By signing up, I agree to StudyStack's Terms of Service and Privacy Policy.


Already a StudyStack user? Log In

Reset Password
Enter the email address associated with your account, and we'll email you a link to reset your password.

Remove ads
Don't know (0)
Know (0)
remaining cards (0)
Save
0:01
To flip the current card, click it or press the Spacebar key.  To move the current card to one of the three colored boxes, click on the box.  You may also press the UP ARROW key to move the card to the "Know" box, the DOWN ARROW key to move the card to the "Don't know" box, or the RIGHT ARROW key to move the card to the Remaining box.  You may also click on the card displayed in any of the three boxes to bring that card back to the center.

Pass complete!

"Know" box contains:
Time elapsed:
Retries:
restart all cards




share
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

Genetic inheritance

USMLE

QuestionAnswerGene
APKD AD APKD1 (chromosome 16)
Familial adenomatous polyposis AD APC (chromosome 5)
Familial hypercholesterolemia (aka ___) AD (hyperlipidemia type IIa) LDL receptor
Hereditary hemorrhagic telangiectasia (aka ___) AD Oseler-Weber-Rendu)
Hereditary spherocytosis AD
Huntington's AD CAG repeat (chromosome 4)
Marfan's syndrome AD Fibrillin 1
MEN AD II, III = ret
Neurofibramatosis I (aka ___) AD von Recklinghousen's disease chromosome 17
Neurofibramatosis type 2 AD NF2 gene (chromosome 22)
Tuberous sclerosis AD
von Hippel Lindau AD VHL (Chromosome 3)
Albinsim (locus heterogeneity) AR
Infantile polcystic kidney disease AR
Cystic fibrosis AR CFTR gene (Phe 508), (Chromosome 7)
Glycogen storage disease AR
Hemochromatosis AR
mucopolysaccharidoses (except ___) AR, Hunter's
phenylketonuria AR
sickle cell anemias AR
Sphingolipidoses (except ___) AR (Fabry's)
Thalassemias AR
Bruton's agammaglobulinemia X
Fragile X X FMR1 gene (CGC) repeat
G6PD deficiency X
Ocular albinism X
Lesh-Nyhan syndrome X
Duchenne's/Becker's X Duchenne's = DMD deleted dystrophin
Hemophilia A/B X
Fabry's Disease X
Hunter's Syndrome X
Myotonic dystrophy trinucleotide repeat CTG
Friedrich's Ataxia trinucleotide repeat (GAA)
Hypophasphatemic rickets X-linked dominant (all female offspring of the affected father are diseased)
Leber's hereditary optic neuropathy Mitochondrial inheritance
Achondroplasia AD FGF 3
Created by: ddecampo