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Cancer
module 4
49
Medical
Professional
09/20/2013
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Term
new (de novo) mutation
 Definition
-achondroplasia
-NF type I
-Marfan syndrome
Term
germline mosaicism
 Definition
-osteogenesis imperfecti
Term
delayed age of onset
 Definition
-Huntington disease
-hereditary hemochromatosis
Term
reduced penetrance
 Definition
-retinoblastoma
-fragile X syndrome
Term
variable expression
 Definition
-NF type I
Term
pleiotropy
 Definition
-cystic fibrosis
-diabetes
-Marfan syndrome
-von Gierke disease
Term
heterogeneity
 Definition
-osteogenesis imperfecti
Term
genomic imprinting
 Definition
-prader-willi syndrome
-angleman syndrome
Term
anticipation
 Definition
-myotonic dystrophy
-fragile X syndrome
-Huntington disease
Term
consanguinity
 Definition
-rare autosomal RECESSIVE diseases
Term
Huntington's disease
 Definition
autosomal dominant
Term
achondroplasia
 Definition
autosomal dominant
Term
NF type 1
 Definition
autosomal dominant
Term
Marfan syndrome
 Definition
autosomal dominant
Term
familial hypercholesterolemia
 Definition
autosomal dominant
Term
Hurler syndrome
 Definition
autosomal recessive
Term
hereditary hemochromatosis
 Definition
autosomal recessive
Term
cystic fibrosis
 Definition
autosomal recessive
Term
sickle cell anemia
 Definition
autosomal recessive
Term
PKU
 Definition
autosomal recessive
Term
b-thalassemia
 Definition
autosomal recessive
Term
Tay Sachs
 Definition
autosomal recessive
Term
Fragile X syndrome
 Definition
X-linked dominant
Term
hemophilia A
 Definition
X-linked recesssive
Term
hemophilia B
 Definition
X-linked recesssive
Term
Lesch-Nyhan syndrome
 Definition
X-linked recesssive
Term
Duchenne muscular dystrophy
 Definition
X-linked recesssive
Term
Becker muscular dystrophy
 Definition
X-linked recesssive
Term
red green color blindness
 Definition
X-linked recesssive
Term
G6PD deficiency
 Definition
X-linked recesssive
Term
OTC deficiency
 Definition
X-linked recesssive
Term
CPEO
 Definition
mitochondrial
Term
LHON
 Definition
mitochondrial
Term
MELAS
 Definition
mitochondrial
Term
MERRF
 Definition
mitochondrial
Term
Kearns-Sayre syndrome
 Definition
mitochondrial
Term
Leigh syndrome
 Definition
mitochondrial
Term
Pearson syndrome
 Definition
mitochondrial
Term
coronary artery disease
 Definition
multifactorial
Term
diabetes
 Definition
multifactorial
Term
obesity
 Definition
multifactorial
Term
alcoholism
 Definition
multifactorial
Term
infantile autism
 Definition
multifactorial
Term
cancer
 Definition
multifactorial
Term
schizophrenia
 Definition
multifactorial
Term
cleft lip/palate
 Definition
multifactorial
Term
pyloric stenosis
 Definition
multifactorial
Term
club foot
 Definition
multifactorial
Term
spina bifida
 Definition
multifactorial
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