Disease #00128 (CF (cystic fibrosis (CF)), OMIM:219700)

Official abbreviation CF
Name cystic fibrosis (CF)
OMIM ID 219700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 563
Phenotype entries for this disease 554
Associated with 3 genes CFTR, FCGR2A, TGFB1
Associated tissues -
Disease features -
Remarks -
Date created 2013-05-14 09:22:43 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

563 entries on 6 pages. Showing entries 1 - 100.
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00000011 NA04364 PubMed: Bell 2011 - M - - - - - - - autism, BMD/DMD, CF, deafness - ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1, TNNT1 ADA, ATP7B, ATR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00001226 - the CFTR2 database see CFTR2 database for details - - - - - - - - CF - CFTR CFTR 435 1 Johan den Dunnen
00035167 - - - - - Germany - - - - - CF clinical CF CFTR CFTR 1 1 Andreas Laner
00035171 - - - - - Germany - - - - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00035182 - - - - - Germany - - - - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00035183 - - - - - Germany - - - - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00035186 - - - - - Germany - - - - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00164653 - - - F ? Russian Federation white 15y - - - CF Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Bronchiectasis. Cirrhosis CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00164654 - - - F ? (Russian Federation) white 08y - - - CF Cystic fibrosis mixed type, severe course. Chronic pancreatic insufficiency. Bronchiectases CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00164657 - - - M ? (Russian Federation) white 17y - - - CF Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Chronic polyposis rhinosinusitis. CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00164659 - - - M ? (Russian Federation) white 09y - - - CF Cystic fibrosis mixed type, severe course. Chronic purulent bronchitis. Chronic pancreatic insufficiency. Cirrhosis associated with cystic fibrosis. Chronic polyposis rhinosinusitis. CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00271321 VL IV:1 PubMed: Poulter 2012 PubMed: Savarese 2014 4 generation family, 1 affected F yes Pakistan - - - - - CF, EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) CFTR, TSPAN12 CFTR, TSPAN12 2 1 Jasmine Chen
00296871 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 2 1 Erina Sasaki
00296876 - Sasaki 2020, submitted - - no Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00296877 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00296878 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 2 1 Erina Sasaki
00299457 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299458 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299459 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299460 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299461 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299462 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299463 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299464 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299465 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299466 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299467 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299468 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299469 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299470 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299471 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299472 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299473 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299474 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299475 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299476 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299477 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299478 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299479 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299480 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299481 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299482 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299483 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299484 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299485 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299486 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299487 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299488 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299489 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299490 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299491 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299492 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299493 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299494 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299495 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299496 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299497 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299498 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299499 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299500 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299501 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299502 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299503 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299504 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299505 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299506 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299507 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299508 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299509 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299510 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299511 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299512 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299513 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299514 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299515 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299516 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299517 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299518 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299519 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299520 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299521 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299522 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299523 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299524 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299525 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299526 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299527 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299528 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299529 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299530 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299531 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299532 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299533 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299534 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299535 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299536 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299537 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299538 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299539 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299540 - Sasaki 2020, submitted - - - Ireland - - - - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
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