Phenotypes for disease #03506 (thalbeta (thalassemia, beta (thalassemia, Hispanic gamma-delta-beta)), OMIM:613985)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

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

Protein: result from protein staining

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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441 entries on 5 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000050951	ß0 phenotype	-	-	Unknown	-	-	-	-	-	Andreas Laner	00064796
0000050980	-	-	-	Unknown	-	-	-	-	-	Andreas Laner	00064825
0000050981	-	-	-	Unknown	-	-	-	-	-	Andreas Laner	00064826
0000051066	ß0 phenotype	-	-	Unknown	-	-	-	-	-	Andreas Laner	00064911
0000051085	-	-	-	Unknown	-	-	-	-	-	Andreas Laner	00064930
0000051089	-	-	-	Unknown	-	-	-	-	-	Andreas Laner	00064934
0000051427	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065312
0000051428	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065317
0000051429	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065346
0000051430	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065349
0000051431	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065362
0000051432	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065363
0000051433	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065365
0000051434	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065372
0000051435	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065385
0000051436	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065393
0000051437	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065394
0000051438	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065399
0000051439	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065428
0000051440	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065438
0000051441	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065440
0000051442	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065465
0000051443	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065466
0000051444	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065480
0000051445	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065554
0000051446	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065565
0000051447	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065588
0000051448	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065656
0000051449	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065671
0000051450	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065692
0000051451	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065745
0000051452	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065774
0000051453	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065778
0000051454	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065794
0000051455	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065819
0000051456	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065862
0000051457	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065868
0000051458	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065876
0000051459	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065903
0000051460	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065917
0000051461	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065924
0000051462	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065935
0000051463	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065964
0000051464	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00065989
0000051465	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066016
0000051466	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066065
0000051467	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066114
0000051468	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066131
0000051469	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066176
0000051470	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066196
0000051471	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066210
0000051472	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066275
0000051473	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066279
0000051474	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066296
0000051475	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066310
0000051476	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066311
0000051477	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066323
0000051478	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066324
0000051479	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066340
0000051480	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066386
0000051481	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066397
0000051482	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066408
0000051483	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066415
0000051484	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066417
0000051485	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066421
0000051486	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066424
0000051487	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066434
0000051488	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066477
0000051489	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066527
0000051490	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066553
0000051491	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066612
0000051492	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066630
0000051493	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066631
0000051494	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066639
0000051495	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066653
0000051496	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066658
0000051497	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066668
0000051498	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066696
0000051499	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066698
0000051500	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066738
0000051501	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066741
0000051502	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066754
0000051503	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066778
0000051504	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066789
0000051505	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066796
0000051506	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066829
0000051507	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066835
0000051508	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066920
0000051509	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066941
0000051510	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066975
0000051511	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00066991
0000051512	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067036
0000051513	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067037
0000051514	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067049
0000051515	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067051
0000051516	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067070
0000051517	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067071
0000051518	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067074
0000051519	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067089
0000051520	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Kees Harteveld	00067094

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Global Variome shared LOVD

ZNF225 (zinc finger protein 225)