Disorders Flashcards by Daniel Sharbel

Q

von Willebrand

A

AD

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Q

Neurofibromatosis

A

AD

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Q

MEN I/II

A

AD

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Q

Achondroplasia

A

AD

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Q

Spingolipidoses (Tay Sachs, Gaucher)

A

AR

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Q

Fabry (Sphingolipidosis exception)

A

XLR

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Q

Mucopolysaccharidoses (Hurler)

A

AR

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Q

Hunter (mucopolysaccharidosis exception)

A

XLR

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Q

Glycogen storage diseases (McArdle)

A

AR

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Q

CF

A

AR

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Q

Marfan

A

AD

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Q

Huntington

A

AD

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Q

Pyloric Stenosis

A

Polygenic

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Q

Cleft lip/palate

A

Polygenic

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Q

Type 2 DM

A

Polygenic

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Q

Down

A

Chromosomal disorder

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Q

Familial hypercholesterolemia

A

AD

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Q

Galactosemia

A

AR

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Q

AA disorders (PKU)

A

AD

Q

Edward

A

Chromosomal disorder

Q

Sickle Cell

A

AR

Q

Hemophilia

A

XLR

Q

G6PD

A

XLR

Q

Patau

A

chromosomal disorder

Q

Lesch-Nyhan

A

XLR

Q

Obesity

A

Polygenic

Q

Neural tube defects

A

Polygenic

Q

Turner syndrome

A

Chromosomal

Q

Schizophrenia

A

Polygenic

Q

Duchenne

A

XLR

Q

Wiskott-Aldrich

A

XLR

Q

Bruton agammaglobulinemia

A

XLR

Q

Fragile X

A

XLR

Q

Children’s Polycystic Kidney Dz

A

AR

Q

Wilson’s

A

AR

Q

Bipolar

A

Polygenic

Q

Ischemic heart disease

A

Polygenic

Q

Alcoholism

A

Polygenic

Q

Hemochromatosis

A

AR

Q

Adrenogenital syndrome (e.g., 21-hydroxylase)

A

AR

Q

Familial polyposis coli

A

AD

Q

Adult polycystic kidney disease

A

AD

Q

Hereditary spherocytosis

A

AD

Q

Tuberous sclerosis

A

AD

Q

Myotonic dystrophy

A

AD