Global Variome shared LOVD
SBDS (Shwachman-Bodian-Diamond syndrome)
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
Di
: Digenic
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
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Arg Ser
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|
Text
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!
Text
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Text
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$
Text
Ser)$
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=""
Text
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Text
="p.0"
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!=""
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!=""
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!=""
Text
!="p.0"
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combination
Text
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
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Date
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all entries not matching March, 2020
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Date
<2020
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Date
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all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
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Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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11 entries on 1 page. Showing entries 1 - 11.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
01692
-
cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)
212112
AD
4
3
LMNA
-
-
02105
-
dermopathy, restrictive, lethal
275210
AR
-
-
LMNA, ZMPSTE24
-
-
02906
-
heart-hand syndrome, Slovenian type
610140
AD
1
-
LMNA
-
-
01227
CMD1A
cardiomyopathy, dilated, type 1A (CMD-1A)
115200
AD
2
1
LMNA
-
-
02556
CMT2B1
Charcot-Marie-Tooth disease, type 2B1 (CMT-2B1)
605588
AR
-
-
LMNA
-
-
01553
EDMD2;LGMD1B
dystrophy, muscular, Emery-Dreifuss, type 2 (EDMD2;LGMD1B)
181350
AD
5
5
LMNA
-
-
04559
EDMD3
dystrophy, muscular, Emery-Dreifuss, type 3, autosomal recessive (EDMD-3)
616516
AR
-
-
LMNA
-
-
01416
FPLD2
lipodystrophy, familial partial, type 2 (FPLD-2)
151660
AD
3
2
LMNA
-
-
01523
HGPS
Hutchinson-Gilford progeria syndrome (HGPS)
176670
AD;AR
51
51
LMNA
-
-
01906
MADA
dysplasia, mandibuloacral, with type A lipodystrophy (MADA)
248370
AR
2
2
LMNA
-
-
03282
MDCL
dystrophy, muscular, congenital, LMNA-related
613205
AD
5
5
LMNA
-
-
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