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67 Cards in this Set
- Front
- Back
achondroplasia
|
AD
|
|
AD polycystic kidney disease
|
AD
|
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Crigler Najjar II
|
AD
|
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Ehlers-Danlos (certain forms)
|
AD
|
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Gilbert
|
AD
|
|
Familial hypertrophic cardiomyopathy
|
AD
|
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Hereditary spherocytosis
|
AD
|
|
Heretidary hemorrhagic telangiectasia
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AD
|
|
Huntington
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AD
|
|
Marfans
|
AD
|
|
MEN
|
AD
|
|
Multiple polyposis syndromes
|
AD
|
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Myotonic dystrophy
|
AD
|
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Osteogenesis imperfecta
|
AD
|
|
Neurofibromatosis
|
AD
|
|
Reinoblastoma
|
AD
|
|
Tuberous sclerosis
|
AD
|
|
von Hippel-Lindau syndrome
|
AD
|
|
von Willebrand disease
|
AD
|
|
Albinism
|
AR
|
|
alpha 1 antirypsin
|
AR
|
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ataxia telangiectasia
|
AR
|
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autosomal recessive polycystic kidney disease
|
ARE
|
|
Bernard Soulier
|
AR
|
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Chediak Higash
|
AR
|
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Crigler Jannar I
|
AR
|
|
CF
|
AR
|
|
dubin Johnson
|
AR
|
|
Ehlers Danlos syndrome (certain forms)
|
AR
|
|
Fanconi anemia
|
AR
|
|
Friedreich ataxia
|
AR
|
|
Glanzmann thrombasthenia
|
AR
|
|
Hemochromatosis
|
ARE
|
|
Kartagener
|
AR
|
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Pseudohypoparathyroidism
|
AR
|
|
Rotor
|
AR
|
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SCID
|
AR
|
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Sicke cell
|
AR
|
|
Thalassemia
|
AR
|
|
Wilson
|
AR
|
|
Xeroderma pigmentosum
|
AR
|
|
Alport
|
x linked dominant
|
|
Brutons
|
X linked
|
|
CGD
|
X linked
|
|
Duchenne's
|
X linked
|
|
Ehlers-Danlos
|
X linked
|
|
Fragile X
|
X linked
|
|
Hemophilia A
|
X linked
|
|
Hemophilia B
|
X linked
|
|
Ocular albinism
|
X linked
|
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Wiskott-Aldrich
|
X linked
|
|
Angelman
|
chromosomal
|
|
Cri du chat
|
chromosomal
|
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DiGeorge
|
chromosomal
|
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Down
|
chromosomal
|
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Edward
|
Chromosomal
|
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Klinefelter
|
chromosomal
|
|
Patau
|
chromosomal
|
|
Prader-Willi
|
chromosomal
|
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Turner
|
Chromosomal
|
|
XYY
|
chromosomal
|
|
diseases with anticipation
|
Huntingtons
myotonic dystrophy fragile X |
|
blood type AB
|
codominance
|
|
Imprinting examples
|
Angelman
Prader-Willi |
|
genes are linked if the LOD score is
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>=3
|
|
pleiotropy
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same gene has different effects on different organ systems
|
|
nonsense mutation
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stop codon
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