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Disease Inheritance
First Aid 2012
61
Medical
Graduate
01/14/2013

Additional Medical Flashcards

 


 

Cards

Term
hypophosphatemic rickets
Definition
XLD
Term
myoclonic epilepsy (MERRF)
Definition
mitochondrial
"ragged red fibers"
Term
mitochondrial encephalopathy (MELAS)
Definition
mitochondrial
"ragged red fibers"
Term
Leber's hereditary optic neuropathy (LHON)
Definition
metochondrial
"ragged red fibers"
Term
achondroplasia
Definition
AD
Term
adult-onset polycystic kidney disease
Definition
AD
Term
infantile polycystic kidney disease
Definition
AR
Term
FAP
Definition
AD
Term
family hypercholesterolemia
Definition
AD
Term
hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu)
Definition
AD
Term
hereditary spherocytosis
Definition
AD
Term
Huntington's
Definition
AD -- trinucleotide repeat disorder (CAG)
chromosome 4
Term
Marfan's
Definition
AD
Term
MEN
Definition
AD
Term
neurofibromatosis type 1
Definition
AD
chromosome 17
Term
neurofibromatosis type 2
Definition
AD
chromosome 22
Term
tuberous sclerosis
Definition
AD
Term
von Hippel-Lindau disease
Definition
AD
chromosome 3
Term
cystic fibrosis
Definition
AR
Term
Bruton's agammaglobulinemia
Definition
XLR
Term
Wiskott-Aldrich
Definition
XLR
Term
Fabry's disease
Definition
XLR
Term
G6PD deficiency
Definition
XLR
Term
ocular albinism
Definition
XLR
Term
Lesch-Nyhan
Definition
XLR
Term
Duchenne's muscular dystrophy
Definition
XLR
Term
Becker's muscular dystrophy
Definition
XLR
Term
Hunter's syndrome
Definition
XLR
Term
Hemophilia A
Definition
XLR
Term
Hemophilia B
Definition
XLR
Term
Fragile X
Definition
XL -- trinucleotide repeat (CGG)
Term
Friedreich's ataxia
Definition
trinucleotide repeat (GAA)
Term
Myotonic dystrophy
Definition
trinucleotide repeat (CTG)
Term
essential fructosuria
Definition
AR
Term
fructose intolerance
Definition
AR
Term
galactokinase dficiency
Definition
AR
Term
galactosemia
Definition
AR
Term
ornithine transcarbamoylase deficiency
Definition
XLR
Term
urea cycle deficiencies (except OTC)
Definition
AR
Term
PKU
Definition
AR
Term
alkaptonuria
Definition
AR
Term
albinism
Definition
variable inheritance (vs. ocular albinism XLR)
Term
homocystinuria
Definition
AR
Term
cystinuria
Definition
AR
Term
Hartnup disease
Definition
AR
Term
Gaucher's
Definition
AR
Term
Niemann-Pick
Definition
AR
Term
Tay-Sachs
Definition
AR
Term
Krabbe's
Definition
AR
Term
Metachromatic leukodystrophy
Definition
AR
Term
Hurler's syndrome
Definition
AR
Term
abetalipoproteinemia
Definition
AR
Term
Chediak-Higashi
Definition
AR
Term
crit du chat
Definition
5p
Term
Williams syndrome
Definition
chromosome 7
cocktail personality
Term
Prader Willi/Angelman's syndrome
Definition
15
Term
albinism
Definition
AR
Term
hemochromatosis
Definition
AR
Term
glycogen storage diseases
Definition
AR
Term
sickle cell
Definition
AR
Term
thalassemia
Definition
AR
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