Phenotypes for disease #05696 (BARTS (Bartter syndrome (BARTS)))

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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	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'

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51 entries on 1 page. Showing entries 1 - 51.

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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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Global Variome shared LOVD

HSF4 (heat shock transcription factor 4)