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Disease subtype
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cholesteryl ester storage disease
congenital cystic adenomatoid malformation type IV
OI type 2
systemic cryptococcosis
undeterminate colitis
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A
alpha-thalassemia
ALPS1A
ALPS1B
ARVD2
C
C1 inhibitor deficiency-associated systemic lupus erythematosus
cholesteryl ester storage disease
CMT4A
CMTXs
congenital cystic adenomatoid malformation type IV
D
Dowling-Meara type epidermolysis bullosa simplex
E
early-onset sarcoidosis
EDS1
EDS2
Ehlers-Danlos syndrome type 4
H
hidrotic ectodermal dysplasia type 2
I
interstitial granuloma annulare
K
Kallmann syndrome type 1
Kozlowski type of spondylometaphyseal dysplasia
O
OI type 1
OI type 2
P
perforating granuloma annulare
S
SCA5
subcutaneous granuloma annulare
systemic cryptococcosis
U
undeterminate colitis
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