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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:idiopathic pulmonary fibrosis
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Accession:DOID:0050156 term browser browse the term
Definition:A common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change.
Synonyms:exact_synonym: Familial Idiopathic Pulmonary Fibrosis;   Fibrocystic Pulmonary Dysplasia;   Fibrocystic Pulmonary Dysplasias;   IPF;   Idiopathic Fibrosing Alveolitis, Chronic Form;   Idiopathic Pulmonary Fibroses;   cryptogenic fibrosing alveolitides;   cryptogenic fibrosing alveolitis;   usual interstitial pneumonia;   usual interstitial pneumonias;   usual interstitial pneumonitides;   usual interstitial pneumonitis
 narrow_synonym: Hamman Rich disease;   Hamman-Rich diseases;   UIP Hamman Rich disease
 related_synonym: idiopathic pulmonary fibrosis, susceptibility to
 primary_id: MESH:D054990
 alt_id: OMIM:178500
 xref: GARD:8609;   ICD10CM:J84.112;   ICD9CM:516.31;   NCI:C35715;   NCI:C35716
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
idiopathic pulmonary fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:25741868 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,603,297...31,698,329
Ensembl chr 1:31,603,297...31,698,329
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr16:81,990,340...82,100,222
Ensembl chr16:81,990,340...82,100,222
JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:24033266 PMID:25741868 NCBI chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Brd4 bromodomain containing 4 ISO RGD PMID:23759512 RGD:9586353 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,939,612...31,968,120
Ensembl chr 1:31,939,585...31,967,915
JBrowse link
G Ccl12 chemokine (C-C motif) ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr10:69,476,866...69,478,416
Ensembl chr10:69,476,775...69,478,462
JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,834,977...31,864,938
Ensembl chr 1:31,835,000...31,864,628
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO DNA:polymorphism:promoter:-156G>C (human)
protein:increased expression:lung, macrophage, type II pneumocyte
RGD PMID:20137269, PMID:11751193 RGD:5135241, RGD:5135250 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Dpp9 dipeptidyl peptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 9:10,846,493...10,882,560
Ensembl chr 9:10,846,596...10,882,649
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr17:20,090,136...20,182,332
Ensembl chr17:20,090,246...20,182,206
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO RGD PMID:24652950 RGD:9589169 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,700,953...31,731,726
Ensembl chr 1:31,700,953...31,731,815
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10946084 RGD:11060143 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 4:89,183,180...89,281,282
Ensembl chr 4:89,183,768...89,281,222
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:15148335 RGD:11049166 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:15148335 RGD:11049166 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:178500 MouseDO NCBI chr 6:25,598,936...25,616,995
Ensembl chr 6:25,598,936...25,616,995
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr12:17,309,122...17,315,267
Ensembl chr12:17,309,834...17,311,112
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr12:50,285,239...50,315,893
Ensembl chr12:50,285,278...50,314,406
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:serum RGD PMID:14555548 RGD:5144236 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:21309737 RGD:5147438 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:lung,bronchoalveolar lavage fluid:
ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
ClinVar PMID:18447576 RGD:4890373 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr 7:3,216,392...3,224,202
Ensembl chr 7:3,216,497...3,224,201
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD PMID:28434932, PMID:21871427 RGD:8694097 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum: RGD PMID:22963039 RGD:7244290 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21506741 PMID:21506748 PMID:23321605 PMID:23583980 PMID:23692170 PMID:23695349 PMID:23940607 PMID:24033266 PMID:25926289 PMID:30345907 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,054,390...32,085,416
Ensembl chr 1:32,058,044...32,084,877
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Parn poly(A)-specific ribonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848748 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO mRNA,protein:increased expression, increased activity:fibroblast RGD PMID:23260200 RGD:10413908 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,576,183...31,591,852
Ensembl chr 1:31,576,183...31,591,849
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:18491991 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO DNA:SNPs: :3050G>C, 8473C>T (human)
protein:decreased expression:lung:
RGD PMID:21319594, PMID:14511257, PMID:20203246 RGD:5135280, RGD:5135507, RGD:5135461 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21373184 RGD:5147566 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25848748 PMID:26025130 PMID:28099038 PMID:28492532 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Rtkn2 rhotekin 2 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar NCBI chr20:21,919,486...22,004,279
Ensembl chr20:21,932,878...22,004,279
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to ClinVar PMID:13680361 PMID:24033266 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by OMIM:178500
CTD
ClinVar
PMID:15039969 PMID:15516475 PMID:18383112 PMID:19443464 PMID:19910179 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:25657025 PMID:25741868 PMID:25782673 PMID:28492532 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,086,755...32,167,950
Ensembl chr 1:32,086,755...32,141,036
JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,221,679...32,235,599
Ensembl chr 1:32,221,636...32,236,051
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26599507 NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30481203, PMID:22684844 RGD:6892915 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17392301 PMID:17460043 PMID:23535734 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by OMIM:178500
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar
CTD
PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 PMID:16990594 PMID:17264120 PMID:17392301 PMID:17460043 PMID:17785587 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21520174 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:22863003 PMID:23066086 PMID:23157242 PMID:23335200 PMID:23348503 PMID:23535731 PMID:23535734 PMID:23538340 PMID:23583980 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25244922 PMID:25271372 PMID:25346280 PMID:25365545 PMID:25562321 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26194807 PMID:26329388 PMID:26360549 PMID:26365799 PMID:26433962 PMID:26887940 PMID:27192671 PMID:27418648 PMID:27824607 PMID:27854218 PMID:28102861 PMID:28154186 PMID:28192371 PMID:28492532 PMID:28677271 PMID:28767289 PMID:28813500 PMID:29036293 PMID:29382801 PMID:29483670 PMID:30203795 PMID:30426156 PMID:30995915 PMID:31265491, PMID:17392301 RGD:11038666 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfpi tissue factor pathway inhibitor severity ISO protein:increased expression:Bronchoalveolar lavage,epithelial cell: RGD PMID:10946084 RGD:11060143 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin severity ISO RGD PMID:20418386 RGD:5685036 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor ISS OMIM:178500 MouseDO NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,866,755...31,890,778
Ensembl chr 1:31,870,899...31,890,778
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,967,980...32,012,923
Ensembl chr 1:31,967,978...32,012,919
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726637 NCBI chr16:4,469,451...4,490,271
Ensembl chr16:4,469,468...4,489,860
JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:31,906,049...31,936,603
Ensembl chr 1:31,906,064...31,936,537
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Pathological Conditions, Signs and Symptoms 8759
      Pathologic Processes 6172
        Fibrosis 1427
          pulmonary fibrosis 220
            idiopathic pulmonary fibrosis 64
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      respiratory system disease 2706
        lower respiratory tract disease 1644
          lung disease 1600
            pneumonia 261
              idiopathic interstitial pneumonia 71
                idiopathic pulmonary fibrosis 64
paths to the root