genoderms alphabetical

Question 1

acral peeling skin syndrome

Answer 1

transglutaminase 5

Question 2

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

Answer 2

p63

Question 3

acrodermatitis enteropathica

Answer 3

SLC39A4

Question 4

acrokeratosis verruciformis of Hopf

Answer 4

ATP2A2

Question 5

acute megakaryocyte leukemia

Answer 5

GATA1

Question 6

Adams-Oliver Syndrome 1

Answer 6

ARHGAP31

Question 7

Adams-Oliver Syndrome 2

Answer 7

DOCK6

Question 8

Alagille-Watson Syndrome

Answer 8

JAG1

Question 9

Albinism, Ocular Type 1

Answer 9

GPR143

Question 10

Albright’s Hereditary Osteodystrophy

Answer 10

GNAS

Question 11

Alkaptonuria

Answer 11

homogentisic acid oxidase

Question 12

Angelman Syndrome

Answer 12

UBE3A

Question 13

anhidrotic/hypohidrotic ectodermal dysplasia

Answer 13

ectodysplasin A

Question 14

ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome

Answer 14

p63

Question 15

anonychia congenita

Answer 15

RSPO4

Question 16

antithrombin III deficiency

Answer 16

SERPINC1

Question 17

Apert Syndrome

Answer 17

FGFR2

Question 18

Type I Hyperlipoproteinemia

Answer 18

APOC2

Question 19

Aquagenic wrinkling of the palms

Answer 19

CFTR

Question 20

arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

Answer 20

desmoglein 2

Question 21

arterial tortuosity syndrome

Answer 21

SLC2A10

Question 22

arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Answer 22

VPS33B

Question 23

ataxia-telangiectasia

Answer 23

ATM

Question 24

Athabascan-type severe combined immunodeficiency (SCIDA)

Answer 24

DCLRE1C

Question 25

atrichia with papules

Answer 25

hairless

Question 26

autoimmune polyendocrinopathy

Answer 26

AIRE