Genes Flashcards

1
Q

FGFR3

A

Achondroplasia

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2
Q

COL1A

A

OI

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3
Q

SLC26A2

A

Diastrophic dysplasia

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4
Q

FBN1

A

Marfan

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5
Q

EXT

A

MHE

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6
Q

TCIRG1

A

Osteopetrosis

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7
Q

FGFR2

A

Apert

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8
Q

PMP22

A

CMT

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9
Q

COMP

A

Pseudoachondroplasia/MED I

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10
Q

COL2A1

A

SED

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11
Q

Type II collagen

A

Kneist

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12
Q

Type IX collagen

A

MED II

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13
Q

PTHrP

A

Jansen’s

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14
Q

Type X collagen

A

Schmid’s

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15
Q

CBFA1/RUNX2

A

Cleidocranial dysplasia

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16
Q

COL1A/COL2A

A

OI

17
Q

DTD

A

Diastrophic Dysplasia (sulfate transport protein)

18
Q

Frataxin

A

Freidrich’s Ataxia

19
Q

ACVRI

A

Fibrodysplasia ossificans progressiva