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