Phenotypes for disease #06856 (GAMOS2 (Galloway-Mowat syndrome 2, X-linked), OMIM:301006)

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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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73 entries on 1 page. Showing entries 1 - 73.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000307436	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415656
0000307437	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415657
0000307438	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415658
0000307439	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415659
0000307440	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415660
0000307441	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415661
0000307442	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415662
0000307443	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415663
0000307444	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415664
0000307445	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415665
0000307446	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415666
0000307447	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415667
0000307448	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415668
0000307449	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415669
0000307450	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415670
0000307451	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415671
0000307452	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415672
0000307453	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415673
0000307454	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415674
0000307455	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415675
0000307456	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415676
0000307457	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415677
0000307458	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415678
0000307459	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415679
0000307460	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415680
0000307461	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415681
0000307462	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415682
0000307463	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415683
0000307464	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415684
0000307465	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415685
0000307466	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415686
0000307467	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415687
0000307468	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415688
0000307469	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415689
0000307470	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415690
0000307471	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415691
0000307472	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415692
0000307473	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415693
0000307474	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415694
0000307475	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415695
0000307476	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415696
0000307477	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415697
0000307478	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415698
0000307479	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415699
0000307480	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415700
0000307481	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415701
0000307482	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415702
0000307483	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415703
0000307484	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415704
0000307485	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415705
0000307486	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415706
0000307487	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415707
0000307488	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415708
0000307489	-	LAD-III	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415709
0000307490	-	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415710
0000307491	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415711
0000307492	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415712
0000307493	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415713
0000307494	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415714
0000307495	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415715
0000307496	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415716
0000307497	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415717
0000307498	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415718
0000307499	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415719
0000307500	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415720
0000307501	-	LAD-II0	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415721
0000307502	-	LAD-II	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415722
0000307503	-	LAD-II?	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415723
0000307504	-	LAD-II	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415724
0000307505	-	LAD-II	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415725
0000307506	-	LAD-II	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415726
0000307507	-	LAD-II	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415727
0000307508	-	LAD-II	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415728

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Global Variome shared LOVD

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