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40 Cards in this Set
- Front
- Back
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von willebrand's
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AD
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Neurofibromatosis
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AD
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MEN I/II
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AD
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Achondroplasia
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AD
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Sphingolipidoses (tay sach's gaucher's)
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AR
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Fabry's disease
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XLR
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Mucopolysaccharidoses
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AR
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Hunter's disease
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XLR
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Glycogen storage diseases (McArdles)
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AR
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Cystic fibrosisq
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AR
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Marfan
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AD
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Huntington
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AD
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Pyloric Stenosis
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polygenetic
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cleft lip/palate
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polygenetic
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Down's
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trisomy 21
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familial hypercholesterolemia
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AD
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Galactosemia
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ar
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pku
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ar
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Edward's
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Trisomy 18
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Sickle cell
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AR
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Hemophilia
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XLR
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G6PD
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XLR
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Patau
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trisomy 13
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Lesch-Nyhan
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XLR
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Duchenne's muscular dystrophy
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XLR
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Wiskott Aldrich
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XLR
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Brouton's Agammaglobulinemia
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XLR
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Fragile X
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XLR
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Childrens PKD
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AR
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Adult PCKD
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AD
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wilson's
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AR
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hemochromatosis
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AR
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21 ALPHA hydroxylase
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AR
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familial polyposis coli
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AD
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Hereditary spherocytosis
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AD
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tuberous sclerosis
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AD
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Myotonic dystrophy
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AD
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what clinical presentation suggests galactosemia?
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congenital cataracts, neonatal sepsis, vomiting after breastfeeding
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clinical findings of tuberous sclerosis
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seizure
hamartomas of CNS (tubers) hypopigmented skin macules cardiac rhabdomyoma angiomyolipomas (renal) |
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etiology of lesch-nyhan
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deficient hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
see congenital hyperuricemia self mutilating behavior |
