Phenotypes for disease #05349 (CGD (granulomatous disease, chronic))

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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/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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1305 entries on 14 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000116579	-	-	-	Unknown	-	-	-	-	Johan den Dunnen	00143801
0000116580	-	-	-	Familial, X-linked recessive	-	-	-	-	Johan den Dunnen	00143802
0000116581	reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK	-	-	Familial, X-linked	-	-	-	-	Johan den Dunnen	00143803
0000116582	reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK	-	-	Familial, X-linked recessive	-	-	-	-	Johan den Dunnen	00143804
0000116583	history of increased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked reduction in ROS productivity (0.05)	-	-	Unknown	-	-	-	-	Johan den Dunnen	00143805
0000307153	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415357
0000307154	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415358
0000307155	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415359
0000307156	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415360
0000307157	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415361
0000307158	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415362
0000307159	see paper; ...,	chronic granulomatous disease	CGD5	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415363
0000307161	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415366
0000307162	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415367
0000307163	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415368
0000307164	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415369
0000307165	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415370
0000307166	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415371
0000307167	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415372
0000307168	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415373
0000307169	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415374
0000307170	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415375
0000307171	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415376
0000307172	see paper; ...,	chronic granulomatous disease	CGD3	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415377
0000307173	see paper; ..., early onset granulomatous colitis	granulomatous colitis	-	Unknown	04y	-	-	-	Johan den Dunnen	00415378
0000307220	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415426
0000307221	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415427
0000307222	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415428
0000307223	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415429
0000307224	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415430
0000307225	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415431
0000307226	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415432
0000307227	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415433
0000307228	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415434
0000307229	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415435
0000307230	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415436
0000307231	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415437
0000307232	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415438
0000307233	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415439
0000307234	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415440
0000307235	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415441
0000307236	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415442
0000307237	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415443
0000307238	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415444
0000307239	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415445
0000307240	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415446
0000307241	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415447
0000307242	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415448
0000307243	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415449
0000307244	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415450
0000307245	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415451
0000307246	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415452
0000307247	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415453
0000307248	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415454
0000307249	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415455
0000307250	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415456
0000307251	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415457
0000307252	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415458
0000307253	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415459
0000307254	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415460
0000307255	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415461
0000307256	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415462
0000307257	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415463
0000307258	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415464
0000307259	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415465
0000307260	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415466
0000307261	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415467
0000307262	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415468
0000307263	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415469
0000307264	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	25y	-	-	-	Johan den Dunnen	00415470
0000307265	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	22y	-	-	-	Johan den Dunnen	00415471
0000307266	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	2y	-	-	-	Johan den Dunnen	00415472
0000307267	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	6y	-	-	-	Johan den Dunnen	00415473
0000307268	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	20y	-	-	-	Johan den Dunnen	00415474
0000307269	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	12y	-	-	-	Johan den Dunnen	00415475
0000307270	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415477
0000307271	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415478
0000307272	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415479
0000307273	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415480
0000307274	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415481
0000307275	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415482
0000307276	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415483
0000307277	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415484
0000307278	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415485
0000307279	see paper; ...,	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415486
0000307280	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415487
0000307281	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415490
0000307282	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415491
0000307283	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415492
0000307284	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415493
0000307285	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415494
0000307286	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415495
0000307287	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415496
0000307288	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415497
0000307289	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415498
0000307290	see paper; ...	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415499
0000307291	-	chronic granulomatous disease	CGD1	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415500
0000307292	see paper; ...	chronic granulomatous disease	CGD2	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415501
0000307293	see paper; ...	chronic granulomatous disease	CGD2	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415502
0000307294	see paper; ...	chronic granulomatous disease	CGD2	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00415503

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