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63 Cards in this Set
- Front
- Back
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which chromosome?
VHL |
3
"VHL"=3 letters |
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which chromosome?
Avelino |
5
"Italy", "BIGH3"=5 letters |
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which chromosome?
lattice corneal dystrophy |
5
"Lines", "BIGH3", "Congo"=5 |
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which chromosome?
Granular dystrophy |
5
"Grain", "BIGH3"=5 |
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which chromosome?
Reis Bucklers |
5
"Reis B" |
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which chromosome?
Tuberous sclerosis |
9 & 16
"sclerosis"9 "retinal hamartoma"=16 |
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which chromosome?
gyrate atrophy |
10
"gyrate gene"=10 |
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which chromosome?
Best's disease |
11
"best disease", "sunny side up" = 11 |
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which chromosome?
Meesmans dystrophy |
12 or 17
"clear bubbles"=12 "peculiar substance"=17 |
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which chromosome?
retinoblastoma |
13
"double hit gene"=13 |
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what chromosome?
stargardt's |
13
"hammered metal", "pisciform dots"=13 |
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what chromosome?
goldmann favre |
15
"Goldmann Favre RP", "Blue sensitivity", "favre night blind"=15 |
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what chromosome?
macular dystrophy |
16
"macular dystrophy"=16 |
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what chromosome?
NF1 |
17
neurofibromatosis=17 |
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what chromosome?
NF2 |
22
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Which HLA Subtype?
ankylosing spondylitis |
90%=B27
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Which HLA Subtype?
psoriatic arthritis |
B27
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Which HLA Subtype?
crohns |
B27
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Which HLA Subtype?
UC |
B27
|
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Which HLA Subtype?
reiters |
75%=B27
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Which HLA Subtype?
men w/ late JRA pauci |
B27
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Which HLA Subtype?
behcets |
B5/Bw51
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Which HLA Subtype?
Birdshot |
97%=A39
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Which HLA Subtype?
POHS |
80%=B7/DR2
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What is the inheritance pattern?
stargardt's |
AR
(stARgARdt's) |
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What is the inheritance pattern?
Best's |
AD
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What is the inheritance pattern?
familial drusen |
AD
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What is the inheritance pattern?
adult onset pattern dystrophies |
AD
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What is the inheritance pattern?
Sorsby macular dystrophy |
AD
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What is the inheritance pattern?
Goldenhar's |
AD,sporadic
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what is the inheritance pattern?
mucopolysaccharides |
all AR, except Hunters=XLR
(remember, with hunters, X marks the spot) |
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what is the inheritance pattern?
posterior embryotoxin |
AD
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what is the inheritance pattern?
Axenfeldt |
AD
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what is the inheritance pattern?
Reigers |
AD
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what is the inheritance pattern?
Peters |
sporadic
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what is the inheritance pattern?
megalocornea |
XL
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what is the inheritance pattern?
CHED |
AR--bad since birth, nystagmus
AD--slowly progressive, therefore no nystagmus |
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what is the inheritance pattern?
refsum |
AR
|
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what is the inheritance pattern?
macular dystrophy |
AR
(all other stromal dystrophies are AD) |
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what is the inheritance pattern?
louis Barr |
AR
(bARr) |
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what is the inheritance pattern?
achromatopsia |
AR
|
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what is the inheritance pattern?
blue monochromatism |
XL
|
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what is the inheritance pattern?
RP |
50%=sporadic, 25%=AD, 15%=AR, 10%=XL (worst)
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what is the inheritance pattern?
fundus albi |
AR
|
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what is the inheritance pattern?
fleck retina of Kandori |
AR
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what is the inheritance pattern?
Ogushi's |
XLR
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what is the inheritance pattern?
optically empty vitreous |
all AD except goldmann favre=AR
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what is the inheritance pattern?
oculocutaneous albinism |
XL or AR
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what is the inheritance pattern?
alports |
XLR or AR
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what is the inheritance pattern?
lowes |
XLR
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what is the inheritance pattern?
waardenbergs |
AD
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what is the inheritance pattern?
chediak higashi |
AR
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what is the inheritance pattern?
homocystinuria |
AR
|
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what is the inheritance pattern?
galactosemia |
AR
|
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what is the inheritance pattern?
fabry's |
XLR
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what is the inheritance pattern?
cystinosis |
AR
|
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what is the inheritance pattern?
gyrate atrophy |
AR
|
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what is the inheritance pattern?
weill marchesani |
AR
|
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what is the inheritance pattern?
marfans |
AD
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what is the inheritance pattern?
retinoblastoma |
AR, but acts as AD with 80% penetrance
40% of another child or child of pt having dx |
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what is the inheritance pattern?
congenital cataracts |
AD
|
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what is the inheritance pattern?
choroideremia |
XLR
|
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what is the inheritance pattern?
aicardi |
XLD (lethal in males)
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