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All diseases
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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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
14 entries on 1 page. Showing entries 1 - 14.
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How to query
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
03275
ARCL1C
cutis laxa, autosomal recessive, type IC (ARCL-1C)
613177
AR
10
9
LTBP4
-
-
04565
DASS
dental anomalies and short stature (DASS)
601216
AR
-
-
LTBP3
-
-
02331
GLC3B
glaucoma, congenital, primary infantile, type 3B (GLC-3B)
600975
-
1
1
CYP1B1, LTBP2
-
-
03246
GLC3D
glaucoma, congenital, primary, type 3D (GLC-3D)
613086
-
19
19
LTBP2
-
-
06120
GPHYSD3
Geleophysic dysplasia 3
617809
AD
-
-
LTBP3
-
-
06632
HADDTS
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
617915
AD
-
-
CTBP1
-
-
00139
ID
intellectual disability (ID)
-
-
2355
2054
AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more
-
-
04655
MRD29
mental retardation, autosomal dominant, type 29 (MRD29)
616078
AD
5
3
SETBP1
-
-
01924
MSPKA
microspherophakia and/or megalocornea, with ectopia lentis, with/without secondary glaucoma (MSPKA)
251750
AR
7
7
LTBP2
-
-
00414
PD
Parkinson disease (PD)
168600
AD;Mu
69
51
ADH1C, ATXN2, GBA, MAPT, TBP
-
-
02634
SCA17
ataxia, spinocerebellar, type 17 (SCA-17)
607136
AD
1
-
TBP
-
-
00741
SGS
Schinzel-Giedion midface retraction syndrome (SGS)
269150
AD
17
3
SETBP1
-
autosomal dominant
03251
STHAG6
agenesis, tooth, selective, type 6 (STHAG-6)
613097
-
-
-
LTBP3
-
-
03734
WMS3
Weill-Marchesani syndrome, type 3 (WMS-3)
614819
AR
1
1
LTBP2
-
-
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