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26 Cards in this Set
- Front
- Back
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ADPKD # |
PKD1 - 16 PKD2 - 4 AD |
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FAP # |
APC - 5 AD |
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familial hypercholesterolemia |
LDL receptor AD |
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HD # |
CAG trinucleotide repeat - 4 AD |
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Marfan |
fibrillin-1 AD |
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MEN2 |
ret AD |
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NF1 # |
NF1 17 (17 letters in von recklinghausen) AD |
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NF2 # |
NF2 22 AD |
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VHL # |
VHL 3 AD |
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CFTR # |
CFTR 7, delPhe508 AR |
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X-linked disorders |
Be Wise, Fool's GOLD Heeds silly HOPe Bruton agammaglobulinemia Wiskott-Aldrich Fabry G6PD Ocular albinism Lesch-Nyhan Duchenne and Becker muscular dystrophy Hunter, Hemophilia Ornithine trascarbamylase deficiency |
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Myotonic dystrophy |
CTG trinucleotide repeat DMPK |
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Fragile X |
FMR1 X-linked, methylation |
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Friedreich Ataxia |
GAA trinucleotide expansion |
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Trinucleotide expansion diseases |
HD, fragile X, friedreich ataxia, myotonic dystrophy |
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HLA-B27 |
PAIR |
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MS |
DR2 |
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hay fever |
dr2 |
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sle |
dr2, dr3 |
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goodpasture |
dr2 |
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celiac |
dq2, dq8 |
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graves |
dr3
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t1DM |
dr3, dr4 |
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hashimoto |
dr3, d5 |
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RA |
Dr4 |
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Pernicious anemia |
DR5 |
