Disorders Flashcards

1
Q

von Willebrand

A

AD

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2
Q

Neurofibromatosis

A

AD

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3
Q

MEN I/II

A

AD

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4
Q

Achondroplasia

A

AD

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5
Q

Spingolipidoses (Tay Sachs, Gaucher)

A

AR

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6
Q

Fabry (Sphingolipidosis exception)

A

XLR

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7
Q

Mucopolysaccharidoses (Hurler)

A

AR

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8
Q

Hunter (mucopolysaccharidosis exception)

A

XLR

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9
Q

Glycogen storage diseases (McArdle)

A

AR

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10
Q

CF

A

AR

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11
Q

Marfan

A

AD

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12
Q

Huntington

A

AD

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13
Q

Pyloric Stenosis

A

Polygenic

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14
Q

Cleft lip/palate

A

Polygenic

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15
Q

Type 2 DM

A

Polygenic

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16
Q

Down

A

Chromosomal disorder

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17
Q

Familial hypercholesterolemia

A

AD

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18
Q

Galactosemia

A

AR

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19
Q

AA disorders (PKU)

A

AD

20
Q

Edward

A

Chromosomal disorder

21
Q

Sickle Cell

A

AR

22
Q

Hemophilia

A

XLR

23
Q

G6PD

A

XLR

24
Q

Patau

A

chromosomal disorder

25
Q

Lesch-Nyhan

A

XLR

26
Q

Obesity

A

Polygenic

27
Q

Neural tube defects

A

Polygenic

28
Q

Turner syndrome

A

Chromosomal

29
Q

Schizophrenia

A

Polygenic

30
Q

Duchenne

A

XLR

31
Q

Wiskott-Aldrich

A

XLR

32
Q

Bruton agammaglobulinemia

A

XLR

33
Q

Fragile X

A

XLR

34
Q

Children’s Polycystic Kidney Dz

A

AR

35
Q

Wilson’s

A

AR

36
Q

Bipolar

A

Polygenic

37
Q

Ischemic heart disease

A

Polygenic

38
Q

Alcoholism

A

Polygenic

39
Q

Hemochromatosis

A

AR

40
Q

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

A

AR

41
Q

Familial polyposis coli

A

AD

42
Q

Adult polycystic kidney disease

A

AD

43
Q

Hereditary spherocytosis

A

AD

44
Q

Tuberous sclerosis

A

AD

45
Q

Myotonic dystrophy

A

AD