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Disease Inheritance
Disease Inheritance
45
Medical
Graduate
05/20/2011
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Term
Achondroplasia
 Definition
AD
FGF receptor 3
Term
APKD
 Definition
AD
APKD1; Chromo 16
Term
FAP
 Definition
AD
APC gene; Chromo 5
Term
Familial hypercholesterolemia
 Definition
AD
LDL receptor
Term
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu synd)
 Definition
AD
Term
Hereditary spherocytosis
 Definition
AD
spectrin or ankyrin
Term
Huntington's dz
 Definition
AD
trinucleotide repeat (CAG)
Chromo 4
Term
Marfan's
 Definition
AD
fibrillin
Term
MEN
 Definition
AD
ret gene (II & III)
Term
NF 1 (von Recklinghausen's)
 Definition
AD
Chromo 17 (long arm)
Term
NF 2
 Definition
AD
Chromo 22
Term
Tuberous sclerosis
 Definition
AD
Term
von Hippel-Lindau dz
 Definition
AD
VHL gene → incr. HIF (a TF); Chromo 3
Term
Albinism
 Definition
AR
Term
ARPKD (infantile polycystic kidney dz)
 Definition
AR
Term
Cystic fibrosis
 Definition
AR
CFTR gene (del Phe 508); chromo 7
Term
Glycogen storage dz's
 Definition
AR
Term
Hemochromatosis
 Definition
AR
Term
Mucopolysaccharidoses (except Hunter's)
 Definition
AR
Term
PKU
 Definition
AR
Term
Sickle cell anemia
 Definition
AR
Term
Sphingolipidoses (except Fabry's)
 Definition
AR
Term
Thalassemias
 Definition
AR
Term
Bruton's agammaglobulinemia
 Definition
XR
Term
Wiskott-Aldrich synd
 Definition
XR
Term
Fragile X
 Definition
XR
trinucleotide repeat (CGG)
FMR1 gene
Term
G6PD defic
 Definition
XR
Term
Ocular albinism
 Definition
XR
Term
Lesch-Nyhan synd
 Definition
XR
Term
Duchenne's MD
 Definition
XR
frame-shift Dystrophin gene (DMD)
Term
Becker's MD
 Definition
XR
Dystrophin gene (DMD)
Term
Hemophilia A & B
 Definition
XR
Term
Fabry's dz
 Definition
XR
Term
Hunter's synd
 Definition
XR
Term
Myotonic MD
 Definition
AD
trinucleotide repeat (GTG )
Myotonia protein kinase gene
Term
Friedreich's ataxia
 Definition
AR
trinucleotide repeat (GAA)
Frataxin gene
Term
Down synd
 Definition
trisomy 21
meiotic nondisjxn,
robertsonian transloc, or Down mosaicism
Term
Edward's synd
 Definition
trisomy 18
Term
Patau's synd
 Definition
trisomy 13
Term
Cri-du-chat synd
 Definition
microdel. of short arm of chromo 5
Term
Williams synd
 Definition
microdel. of long arm of chromo 7
Term
DiGeorge synd
 Definition
microdel. at 22q11
Term
Myoclonic epilepsy with ragged red fibers
 Definition
Mitochondrial maternal
Term
Leber optic neuropahty
 Definition
mitochondrial maternal
Term
Mitochondrial encephalopathy with stroke-like episodes and lactic adidosis (MELAS)
 Definition
Mitochondrial maternal
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