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genoderm mutations > genoderms alphabetical > Flashcards

genoderms alphabetical Flashcards

1
Q

acral peeling skin syndrome

A

transglutaminase 5

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2
Q

acro-dermato-ungual-lacrimal tooth (ADULT) syndrome

A

p63

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3
Q

acrodermatitis enteropathica

A

SLC39A4

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4
Q

acrokeratosis verruciformis of Hopf

A

ATP2A2

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5
Q

acute megakaryocyte leukemia

A

GATA1

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6
Q

Adams-Oliver Syndrome 1

A

ARHGAP31

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7
Q

Adams-Oliver Syndrome 2

A

DOCK6

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8
Q

Alagille-Watson Syndrome

A

JAG1

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9
Q

Albinism, Ocular Type 1

A

GPR143

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10
Q

Albright’s Hereditary Osteodystrophy

A

GNAS

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11
Q

Alkaptonuria

A

homogentisic acid oxidase

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12
Q

Angelman Syndrome

A

UBE3A

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13
Q

anhidrotic/hypohidrotic ectodermal dysplasia

A

ectodysplasin A

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14
Q

ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome

A

p63

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15
Q

anonychia congenita

A

RSPO4

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16
Q

antithrombin III deficiency

A

SERPINC1

17
Q

Apert Syndrome

A

FGFR2

18
Q

Type I Hyperlipoproteinemia

A

APOC2

19
Q

Aquagenic wrinkling of the palms

A

CFTR

20
Q

arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

A

desmoglein 2

21
Q

arterial tortuosity syndrome

A

SLC2A10

22
Q

arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

A

VPS33B

23
Q

ataxia-telangiectasia

A

ATM

24
Q

Athabascan-type severe combined immunodeficiency (SCIDA)

A

DCLRE1C

25
Q

atrichia with papules

A

hairless

26
Q

autoimmune polyendocrinopathy

A

AIRE

genoderm mutations (3 decks)

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