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21 Cards in this Set
- Front
- Back
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Achondroplasia
|
AD
FGF receptor 3 |
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Adult Polycystic Kidney Disease
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AD
APKD1 Chromosome 16 **Infant form is AR |
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Familial Adenomatous Polyposis
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AD
APC gene Chromosome 5 |
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Familial Hypercholesterolemia
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AD
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Hereditary Hemorrhagic Telangiectasia
Osler Weber Rendu Syndrome |
AD
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Hereditary Spherocytosis
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AD
Spectrin/Ankyrin Defect |
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Huntington's Disease
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AD
CAG repeats Chromosome 4 |
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Marfan's Syndrome
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AD
Fibrillin mutation |
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MEN
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AD
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Neurofibromatosis 1
Von Recklinghausen's Disease |
AD
Chromosome 17 |
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Neurofibromatosis 2
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AD
Chromosome 22 |
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Tuberous Sclerosis
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AD
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von Hippel-Lindau disease
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AD
VHL gene Chromosome 3 |
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Cystic Fibrosis
|
AR
CFTR gene Chromosome 7 (Phe508) |
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Sickle Cell and B-Thal
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AR
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Albinism
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AR
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Hemochromatosis
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AR
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Duchenne's Muscular Dystrophy
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X-linked frameshift
Deletion of Dystrophin gene *Primarily in skeletal and cardiac muscle |
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Fragile X Syndrome
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X-linked
FMR1 gene CGG repeat |
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Cri-du-Chat
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Microdeletion of short arm of 5
-5p |
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Williams Syndrome
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Microdeletion of long arm (q) of 7
Elf face |
