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Genetic Disease Inheritance Patterns for Step1
Diseases taken from Becker/Falcon review book and 1st Aid
43
Biology
Professional
09/13/2013
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Term
Acute Intermittent Porphyria
 Definition
AD
Term
Familial Hypercholesterolemia
 Definition
AD
Term
Huntington's Dx
 Definition
AD
Term
Marfan Syndrome
 Definition
AD
Term
Neurofibromatosis type I
 Definition
AD
Term
Cystic Fibrosis
 Definition
AR
Term
Phenylketonuria
 Definition
AR
Term
Sickle Cell Anemia
 Definition
AR
Term
Tay-Sachs Dx
 Definition
AR
Term
Bruton Agammaglobulinemia
 Definition
X-linked recessive
Term
Duchenne Muscular Dystrophy
 Definition
X-linked recessive
Term
G6PD Deficiency
 Definition
X-linked recessive
Term
Hemophilia A & B
 Definition
X-linked recessive
Term
Lesch-Nyhan Syndrome
 Definition
X-linked recessive
Term
Menkes Dx
 Definition
X-linked recessive
Term
Ornithine Transcarbamoylase Deficiency
 Definition
X-linked recessive
Term
IL receptor gamma chain SCID
 Definition
X-linked recessive
Term
Fragile X Syndrome
 Definition
X-linked dominant
Term
Hypophosphatemic Rickets
 Definition
X-linked dominant
Term
Pyruvate Dehydrogenase Deficiency
 Definition
X-linked dominant
Term
Leber hereditary optic neuropathy
 Definition
Mitochondrial
Term
MELAS(Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms)
 Definition
Mitochondrial
Term
Myoclonic epilepsy with ragged red fibers
 Definition
Mitochondrial
Term
Achondroplasia
 Definition
AD
Term
Familial Adenomatous Polyposis
 Definition
AD
Term
Adult Polycystic Kidney Disease
 Definition
AD
Term
Hereditary Hemorrhagic telangiectasia(Osler-Weber-Rendu syndrome)
 Definition
AD
Term
Hereditary Sphereocytosis
 Definition
AD
Term
Multiple Endocrine Neoplasia(MEN)
 Definition
AD
Term
Neurofibromatosis type 2
 Definition
AD
Term
Tuberous Sclerosis
 Definition
AD
Term
von Hippel-Lindau Dx
 Definition
AD
Term
Infantile Polycystic Kidney Dx
 Definition
AR
Term
Albinism
 Definition
AR
Term
Gylcogen storage diseases
 Definition
AR
Term
Hemochromatosis
 Definition
AR
Term
Sphingolipidoses(except Fabry's)
 Definition
AR
Term
Mucopolysaccharidoses(except Hunter's)
 Definition
AR
Term
Thalassemias
 Definition
AR
Term
Wiskott-Aldrich Syndrome
 Definition
X-linked recessive
Term
Fabry's disease
 Definition
X-linked recessive
Term
Ocular albinism
 Definition
X-linked recessive
Term
Hunter's Syndrome
 Definition
X-linked recessive
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