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Phenotypes for disease #05696 (BARTS (Bartter syndrome (BARTS)))
Legend
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.
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
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!
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
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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
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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'
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51 entries on 1 page. Showing entries 1 - 51.
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Legend
How to query
Phenotype ID
Diagnosis/Initial
Diagnosis/Definite
Phenotype details
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Owner
Individual ID
0000221980
polyhydramnios
BARTS5
19w-onset polyhydramnios; gestational age at delivery 22w; no neonatal survival
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288242
0000221981
polyhydramnios
BARTS5
19w-onset polyhydramnios; amniotic fluid index 51cm; gestational age at delivery 27w; neonatal survival; polyuria 5w; nephrocalcinosis; indometacin 1y
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288243
0000221982
polyhydramnios
BARTS5
19w-onset polyhydramnios; amniotic fluid index 98cm; gestational age at delivery 31w; neonatal survival; polyuria 1w; nephrocalcinosis; no indometacin
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288244
0000221983
polyhydramnios
BARTS5
polyhydramnios; gestational age at delivery 25w; no neonatal survival;
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288245
0000221984
polyhydramnios
BARTS5
20w-onset polyhydramnios; amniotic fluid index 67cm; gestational age at delivery 28w; neonatal survival; polyuria 5w; no nephrocalcinosis; no indometacin
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288246
0000221985
polyhydramnios
BARTS5
polyhydramnios; gestational age at delivery 34w; neonatal survival; no polyuria; no indometacin
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288247
0000221986
polyhydramnios
BARTS5
polyhydramnios; gestational age at delivery 33w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 9y
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288248
0000221987
polyhydramnios
BARTS5
19w-onset polyhydramnios; amniotic fluid index 72cm; gestational age at delivery 31w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 3y
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288249
0000221988
polyhydramnios
BARTS5
20w-onset polyhydramnios; gestational age at delivery 24w; neonatal survival; polyuria 6w; nephrocalcinosis; indometacin 1y
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288250
0000221989
polyhydramnios
BARTS5
20w-onset polyhydramnios; gestational age at delivery 26w; neonatal survival; polyuria 4w; nephrocalcinosis; no indometacin
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288251
0000221990
polyhydramnios
BARTS5
19w-onset polyhydramnios; amniotic fluid index 40cm; gestational age at delivery 27w; neonatal survival; polyuria 4w; nephrocalcinosis; indometacin 1.2y
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288252
0000221991
polyhydramnios
BARTS5
polyhydramnios; gestational age at delivery 30w; no neonatal survival;
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288253
0000221992
polyhydramnios
BARTS5
polyhydramnios; gestational age at delivery 29w; neonatal survival; polyuria 1w; nephrocalcinosis; indometacin 2.8y
Familial, X-linked recessive
-
-
-
-
Johan den Dunnen
00288254
0000257336
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361945
0000257337
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361946
0000257338
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361947
0000257339
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361948
0000257340
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361949
0000257341
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361950
0000257342
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361951
0000257343
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361952
0000257344
Bartter syndrome
BARTS1
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361953
0000257345
Bartter syndrome
BARTS3
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361954
0000257346
Bartter syndrome
BARTS3
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361955
0000257347
Bartter syndrome
BARTS3
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361956
0000257348
Bartter syndrome
-
-
Unknown
-
-
-
-
Johan den Dunnen
00361957
0000257349
Bartter syndrome
BARTS3
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361958
0000257350
Bartter syndrome
BARTS3
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361959
0000257351
Bartter syndrome
BARTS4A
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361960
0000257352
Bartter syndrome
BARTS4A
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361961
0000257353
Bartter syndrome
BARTS4A
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361962
0000257354
Bartter syndrome
BARTS4A
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361963
0000257355
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361964
0000257356
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361965
0000257357
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361966
0000257358
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361967
0000257359
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361968
0000257360
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361969
0000257361
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361970
0000257362
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361971
0000257363
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361972
0000257364
Bartter syndrome
-
-
Unknown
-
-
-
-
Johan den Dunnen
00361973
0000257365
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361974
0000257366
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361975
0000257367
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361976
0000257368
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361977
0000257369
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361978
0000257370
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361979
0000257371
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361980
0000257372
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361981
0000257373
Bartter syndrome
BARTS2
-
Familial, autosomal recessive
-
-
-
-
Johan den Dunnen
00361982
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