Term:cystic fibrosis
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Accession:DOID:1485 term browser browse the term
Definition:An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Synonyms:exact_synonym: CF;   Cystic Fibrosis of Pancreas;   Fibrocystic Disease of Pancreas;   Mucoviscidosis;   Pancreas Fibrocystic Disease;   Pancreas Fibrocystic Diseases;   Pancreatic Cystic Fibrosis;   Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis;   Pulmonary Cystic Fibrosis
 narrow_synonym: Nonclassic cystic fibrosis
 primary_id: MESH:D003550;   RDO:0002797
 alt_id: OMIM:219700
 xref: GARD:6233
For additional species annotation, visit the Alliance of Genome Resources.

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cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link NW_004936486 4,400,467 4,401,588 RGD:9068941
G Adrb2 adrenoceptor beta 2 JBrowse link NW_004936504 5,985,407 5,987,453 RGD:9068941
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004936710 1,410,589 1,413,279 RGD:9068941
G Ager advanced glycosylation end-product specific receptor JBrowse link NW_004936727 1,418,342 1,422,005 RGD:9068941
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004936580 5,480,023 5,482,288 RGD:9068941
G Ccl11 C-C motif chemokine ligand 11 JBrowse link NW_004936538 835,436 848,907 RGD:9068941
G Ccl17 C-C motif chemokine ligand 17 JBrowse link NW_004936475 9,475,013 9,476,326 RGD:9068941
G Ccr3 C-C motif chemokine receptor 3 JBrowse link NW_004936596 223,660 224,739 RGD:9068941
G Cd14 CD14 molecule JBrowse link NW_004936531 9,572,392 9,575,771 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004936513 10,607,617 10,620,403 RGD:9068941
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link NW_004936589 1,565,933 1,719,208 RGD:7240710
G Csf3r colony stimulating factor 3 receptor JBrowse link NW_004936474 18,877,036 18,887,574 RGD:9068941
G Cxcl8 C-X-C motif chemokine ligand 8 JBrowse link NW_004936598 1,779,471 1,781,353 RGD:9068941
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link NW_004936676 33,580 40,323 RGD:9068941
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link NW_004936762 66,636 69,694 RGD:9068941
G Dctn4 dynactin subunit 4 JBrowse link NW_004936504 4,252,442 4,285,151 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004936534 885,489 892,292 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004936481 14,789,547 14,795,780 RGD:9068941
G Gclc glutamate-cysteine ligase catalytic subunit JBrowse link NW_004936476 7,371,270 7,418,756 RGD:9068941
G Gstm3 glutathione S-transferase mu 3 JBrowse link NW_004936704 1,233,909 1,236,864 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004936599 2,197,681 2,200,642 RGD:9068941
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link NW_004936515 6,001,324 6,015,407 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004936492 5,042,353 5,049,216 RGD:9068941
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link NW_004936727 1,732,323 1,735,128 RGD:9068941
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link NW_004936506 1,678,069 1,687,632 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004936478 20,511,490 20,518,251 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004936647 2,529,933 2,532,503 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004936476 8,621,860 8,625,008 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004936612 2,306,963 2,325,086 RGD:9068941
G Il18bp interleukin 18 binding protein JBrowse link NW_004936498 1,353,569 1,358,312 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004936783 1,210,715 1,218,315 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004936783 1,251,678 1,256,807 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004936783 1,447,158 1,466,331 RGD:9068941
G Il9 interleukin 9 JBrowse link NW_004936597 2,983,953 2,986,975 RGD:9068941
G Il9r interleukin 9 receptor JBrowse link NW_004936501 829,236 840,130 RGD:9068941
G Irf1 interferon regulatory factor 1 JBrowse link NW_004936647 2,686,247 2,693,633 RGD:9068941
G Lep leptin JBrowse link NW_004936479 15,394,966 15,411,334 RGD:9068941
G LOC101959685 complement C5 JBrowse link NW_004936487 9,391,774 9,474,168 RGD:9068941
G LOC101967357 mucin-6 JBrowse link NW_004936816 882 14,717 RGD:9068941
G LOC101969148 cytochrome P450 1A1 JBrowse link NW_004936471 33,682,730 33,688,332 RGD:9068941
G Lta lymphotoxin alpha JBrowse link NW_004936727 1,940,081 1,941,022 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004936619 1,207,058 1,208,010 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004936514 7,038,240 7,045,873 RGD:9068941
G Mpo myeloperoxidase JBrowse link NW_004936490 4,809,773 4,819,070 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004936580 4,691,870 4,694,092 RGD:9068941
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link NW_004936816 60,499 91,628 RGD:9068941
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link NW_004936816 129,926 159,396 RGD:9068941
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link NW_004936816 174,943 209,241 RGD:9068941
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link NW_004936631 2,503,353 2,538,957 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004936538 4,052,277 4,097,051 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004936527 6,427,147 6,445,770 RGD:9068941
G Ppara peroxisome proliferator activated receptor alpha JBrowse link NW_004936629 3,672,445 3,725,645 RGD:9068941
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link NW_004936581 2,069,355 2,072,535 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004936481 3,821,564 3,828,086 RGD:9068941
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link NW_004936709 1,377,852 1,403,398 RGD:9068941
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link NW_004936501 8,021,090 8,065,245 RGD:9068941
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link NW_004936501 7,932,729 7,958,146 RGD:9068941
G Serpina3 serpin family A member 3 JBrowse link NW_004936846 174,411 182,053 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004936712 1,614,979 1,621,207 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004936555 5,966,610 5,982,083 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004936716 60,754 73,010 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004936661 3,742,080 3,758,266 RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link NW_004936502 13,345,936 13,350,170 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004936487 6,519,140 6,532,018 RGD:9068941
G Tlr5 toll like receptor 5 JBrowse link NW_004936526 383,490 387,007 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 RGD:9068941
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004936709 1,407,327 1,421,448 RGD:9068941
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a9 solute carrier family 26 member 9 JBrowse link NW_004936557 6,562,125 6,588,200 RGD:9068941
G Slc6a14 solute carrier family 6 member 14 JBrowse link NW_004936479 13,024,831 13,051,908 RGD:9068941
G Slc9a3 solute carrier family 9 member A3 JBrowse link NW_004936815 963,715 999,280 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10699
    disease of anatomical entity 10235
      gastrointestinal system disease 3461
        pancreas disease 724
          cystic fibrosis 73
            Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
            Cystic Fibrosis, Modifier of, 1 3
            Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
            Lubani Al Saleh Teebi Syndrome 0
Path 2
Term Annotations click to browse term
  disease 10699
    Developmental Diseases 6939
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6100
        genetic disease 5409
          monogenic disease 2617
            autosomal genetic disease 1990
              autosomal recessive disease 1178
                cystic fibrosis 73
                  Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
                  Cystic Fibrosis, Modifier of, 1 3
                  Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
                  Lubani Al Saleh Teebi Syndrome 0
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.