Phenotypes for disease #00128 (CF (cystic fibrosis (CF)), OMIM:219700)

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Diagnosis/Initial: initial diagnosis, before molecular testing

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

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

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

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

Protein: result from protein staining

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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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554 entries on 6 pages. Showing entries 1 - 100.

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Phenotype ID	Diagnosis/Initial	Inheritance	Age/Examination	Diagnosis/Definite	Age/Diagnosis	Age/Onset	Phenotype/Onset	Phenotype details	Protein	Owner	Individual ID
0000129690	Cystic Fibrosis	Familial, autosomal recessive	15y	Cystic Fibrosis	-	-	-	Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Bronchiectasis. Cirrhosis	-	Zobkova Gaukhar Yurevna	00164653
0000129691	Cystic Fibrosis	Familial, autosomal recessive	08y	Cystic Fibrosis	-	-	-	Cystic fibrosis mixed type, severe course. Chronic pancreatic insufficiency. Bronchiectases	-	Zobkova Gaukhar Yurevna	00164654
0000129694	Cystic Fibrosis	Familial, autosomal recessive	17y	Cystic Fibrosis	-	-	-	Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Chronic polyposis rhinosinusitis.	-	Zobkova Gaukhar Yurevna	00164657
0000129697	Cystic Fibrosis	Familial, autosomal recessive	09y	Cystic Fibrosis	-	-	-	Cystic fibrosis mixed type, severe course. Chronic purulent bronchitis. Chronic pancreatic insufficiency. Cirrhosis associated with cystic fibrosis. Chronic polyposis rhinosinusitis.	-	Zobkova Gaukhar Yurevna	00164659
0000156040	cystic fibrosis	Unknown	-	-	-	-	-	clinical CF	-	Andreas Laner	00035167
0000156042	cystic fibrosis	Unknown	-	-	-	-	-	cystic fibrosis	-	Andreas Laner	00035171
0000156046	cystic fibrosis	Unknown	-	-	-	-	-	cystic fibrosis	-	Andreas Laner	00035182
0000156047	cystic fibrosis	Unknown	-	-	-	-	-	cystic fibrosis	-	Andreas Laner	00035183
0000156049	cystic fibrosis	Unknown	-	-	-	-	-	cystic fibrosis	-	Andreas Laner	00035186
0000224270	-	Familial, autosomal recessive	-	CFTR	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00296871
0000224273	-	Familial, autosomal recessive	-	CFTR	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00296876
0000224274	-	Familial, autosomal recessive	-	CFTR	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00296877
0000224275	-	Familial, autosomal recessive	-	CFTR	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00296878
0000226767	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299457
0000226768	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299458
0000226769	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299459
0000226770	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299460
0000226771	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299461
0000226772	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299462
0000226773	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299463
0000226774	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299464
0000226775	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299465
0000226776	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299466
0000226777	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299467
0000226778	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299468
0000226779	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299469
0000226780	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299470
0000226781	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299471
0000226782	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299472
0000226783	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299473
0000226784	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299474
0000226785	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299475
0000226786	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299476
0000226787	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299477
0000226788	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299478
0000226789	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299479
0000226790	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299480
0000226791	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299481
0000226792	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299482
0000226793	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299483
0000226794	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299484
0000226795	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299485
0000226796	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299486
0000226797	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299487
0000226798	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299488
0000226799	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299489
0000226800	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299490
0000226801	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299491
0000226802	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299492
0000226803	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299493
0000226804	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299494
0000226805	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299495
0000226806	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299496
0000226807	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299497
0000226808	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299498
0000226809	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299499
0000226810	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299500
0000226811	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299501
0000226812	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299502
0000226813	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299503
0000226814	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299504
0000226815	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299505
0000226816	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299506
0000226817	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299507
0000226818	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299508
0000226819	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299509
0000226820	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299510
0000226821	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299511
0000226822	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299512
0000226823	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299513
0000226824	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299514
0000226825	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299515
0000226826	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299516
0000226827	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299517
0000226828	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299518
0000226829	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299519
0000226830	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299520
0000226831	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299521
0000226832	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299522
0000226833	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299523
0000226834	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299524
0000226835	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299525
0000226836	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299526
0000226837	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299527
0000226838	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299528
0000226839	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299529
0000226840	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299530
0000226841	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299531
0000226842	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299532
0000226843	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299533
0000226844	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299534
0000226845	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299535
0000226846	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299536
0000226847	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299537
0000226848	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299538
0000226849	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299539
0000226850	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299540
0000226851	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299541
0000226852	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299542
0000226853	-	Familial, autosomal recessive	-	CF	-	-	-	elevated sweat chloride (HP:0012236)	-	Erina Sasaki	00299543

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Global Variome shared LOVD

C12orf57 (chromosome 12 open reading frame 57)