USMLE
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| APKD | AD | APKD1 (chromosome 16)
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| Familial adenomatous polyposis | AD | APC (chromosome 5)
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| Familial hypercholesterolemia (aka ___) | AD (hyperlipidemia type IIa) | LDL receptor
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| Hereditary hemorrhagic telangiectasia (aka ___) | AD Oseler-Weber-Rendu) |
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| Hereditary spherocytosis | AD |
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| Huntington's | AD | CAG repeat (chromosome 4)
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| Marfan's syndrome | AD | Fibrillin 1
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| MEN | AD | II, III = ret
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| Neurofibramatosis I (aka ___) | AD von Recklinghousen's disease | chromosome 17
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| Neurofibramatosis type 2 | AD | NF2 gene (chromosome 22)
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| Tuberous sclerosis | AD |
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| von Hippel Lindau | AD | VHL (Chromosome 3)
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| Albinsim (locus heterogeneity) | AR |
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| Infantile polcystic kidney disease | AR |
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| Cystic fibrosis | AR | CFTR gene (Phe 508), (Chromosome 7)
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| Glycogen storage disease | AR |
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| Hemochromatosis | AR |
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| mucopolysaccharidoses (except ___) | AR, Hunter's |
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| phenylketonuria | AR |
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| sickle cell anemias | AR |
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| Sphingolipidoses (except ___) | AR (Fabry's) |
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| Thalassemias | AR |
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| Bruton's agammaglobulinemia | X |
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| Fragile X | X | FMR1 gene (CGC) repeat
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| G6PD deficiency | X |
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| Ocular albinism | X |
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| Lesh-Nyhan syndrome | X |
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| Duchenne's/Becker's | X | Duchenne's = DMD deleted dystrophin
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| Hemophilia A/B | X |
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| Fabry's Disease | X |
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| Hunter's Syndrome | X |
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| Myotonic dystrophy | trinucleotide repeat | CTG
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| Friedrich's Ataxia | trinucleotide repeat | (GAA)
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| Hypophasphatemic rickets | X-linked dominant (all female offspring of the affected father are diseased) |
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| Leber's hereditary optic neuropathy | Mitochondrial inheritance |
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| Achondroplasia | AD | FGF 3
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To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
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Created by:
ddecampo
Popular Genetics sets