genetic disorders classification Flashcards

1
Q

beta-thalassemia

A

AR

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2
Q

alpha-thalassemia

A

AR

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3
Q

cystic fibrosis

A

AR

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4
Q

phenylketonuria

A

AR

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5
Q

spinal muscular atrophy

A

AR

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6
Q

SURF1 (mitochondrial disorder)

A

AR

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7
Q

familial hypocholesteromia

A

AD

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8
Q

familial adenomatous polyposis coli

A

AD

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9
Q

neurofibromatosis type 1

A

AD

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10
Q

achondroplasia

A

AD

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11
Q

osteogenesis imperfecta

A

AD

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12
Q

huntington chorea

A

AD

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13
Q

multiple endocrine neoplasm

A

AD

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14
Q

AD polycystic kidney disease

A

AD

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15
Q

tuberous sclerosis

A

AD

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16
Q

myotonic dystrophy

A

AD

17
Q

ANT1 (mitochondrial disorder)

A

AD

18
Q

G6PD deficiency

A

XLR

19
Q

red-green color blindness

A

XLR

20
Q

duchenne muscular dystrophy

A

XLR

21
Q

haemophilia A

A

XLR

22
Q

TIMM8 (mitochondrial disorder)

A

XLR

23
Q

incontinentia pigmenti

A

XLD

24
Q

X-linked hypophosphatemic rickets

A

XLD

25
Q

Down Syndrome

A

trisomy 21

26
Q

Chronic Myeloid Leukemia

A

translocation (22:9), philadelphia chromosome - BCR-ADL

27
Q

MELAS - mitochondrial encephalopathy with lactic acidosis and stroke-like symptoms

A

mtDNA

28
Q

MERRF (myoclonic epilepsy with ragged red fibres)

A

mtDNA

29
Q

Kearns-Sayre Syndrome (KSS)

A

mtDNA

30
Q

Chronic progressive external ophthalmoplegia (CPEO)

A

mtDNA

31
Q

neurogenic weakness with ataxia and retinitis pigmentosa (NARP)

A

mtDNA

32
Q

Leigh Syndrome

A

mtDNA

33
Q

Leber heriditary Optic Neuropathy (single-organ)

A

mtDNA