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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 pulmonary fibrosis that is characterized by scarring of the lung. (DO)
Synonyms:exact_synonym: Fibrocystic Pulmonary Dysplasia;   Fibrocystic Pulmonary Dysplasias;   ILD2;   IPF;   Idiopathic Fibrosing Alveolitis, Chronic Form;   cryptogenic fibrosing alveolitides;   cryptogenic fibrosing alveolitis;   familial idiopathic pulmonary fibrosis;   idiopathic pulmonary fibroses;   interstitial lung disease 2;   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: EFO:0000768;   GARD:8609;   ICD10CM:J84.112;   ICD9CM:516.31;   NCI:C35715;   NCI:C35716
For additional species annotation, visit the Alliance of Genome Resources.



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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 Pulmonary Fibrosis ClinVar PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
JBrowse link
G Ahrr aryl-hydrocarbon receptor repressor ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,993,634...29,088,673
Ensembl chr 1:28,993,634...29,088,673
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein: decreased expression: respiratory system fluid/secretion RGD PMID:20463180 RGD:5508222 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
JBrowse link
G Brd4 bromodomain containing 4 ISO RGD PMID:23759512 RGD:9586353 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Brd9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,329,974...29,357,285
Ensembl chr 1:29,329,985...29,357,016
JBrowse link
G Ccl12 C-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780
JBrowse link
G Cep72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO mRNA,protein:increased expression:lung myofibroblast: RGD PMID:22582174 RGD:11341695 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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 chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 treatment ISO
IMP
mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
JBrowse link
G Dpp9 dipeptidyl peptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
CTD
ClinVar
PMID:23583980 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Dtnbp1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr17:19,685,218...19,776,668
Ensembl chr17:19,685,215...19,776,661
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO RGD PMID:24652950 RGD:9589169 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Ep300 E1A binding protein p300 treatment ISO
IMP
mRNA:increased expression:lung (human) RGD PMID:30119248 PMID:30119248 RGD:151347411, RGD:151347411 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Exoc3 exocyst complex component 3 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,091,298...29,122,056
Ensembl chr 1:29,091,294...29,122,045
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10946084 RGD:11060143 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fam13a family with sequence similarity 13, member A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
CTD
ClinVar
PMID:23583980 NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:15148335 RGD:11049166 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO RGD PMID:15148335 RGD:11049166 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:178500 MouseDO NCBI chr 6:24,297,898...24,319,157
Ensembl chr 6:24,300,956...24,320,034
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30165855 NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:28434932 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:serum RGD PMID:14555548 RGD:5144236 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:21309737 RGD:5147438 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Lama3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
JBrowse link
G Mir184 microRNA 184 ISO RNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
JBrowse link
G Mir31 microRNA 31 ISO RNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 5:103,599,038...103,599,143 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:lung,bronchoalveolar lavage fluid:
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
ClinVar
RGD
PMID:18447576 RGD:4890373 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:28434932 PMID:21871427 RGD:8694097 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum: RGD PMID:22963039 RGD:7244290 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | 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 More... NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Nkd2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:25741868 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO mRNA:increased expression:lung RGD PMID:21330466 RGD:5684550 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Parn poly(A)-specific ribonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:25848748 NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO mRNA,protein:increased expression, increased activity:fibroblast RGD PMID:23260200 RGD:10413908 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pdcd6 programmed cell death 6 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,966,518...28,982,188
Ensembl chr 1:28,966,518...28,982,189
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:18491991 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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 chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21373184 RGD:5147566 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
CTD
ClinVar
PMID:23329068 PMID:23453664 PMID:23959892 PMID:24009516 PMID:24033266 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Rtkn2 rhotekin 2 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr20:20,525,256...20,609,951
Ensembl chr20:20,525,256...20,609,951
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase exacerbates ISO associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) RGD PMID:33533494 RGD:150429642 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Pulmonary fibrosis, idiopathic, susceptibility to ClinVar PMID:13680361 PMID:24033266 PMID:25741868 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form
CTD
ClinVar
PMID:14735158 PMID:15039969 PMID:15516475 PMID:15709974 PMID:18383112 More... NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Slc12a7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
JBrowse link
G Slc6a18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link
G Smad2 SMAD family member 2 ISO mRNA:increased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Smad6 SMAD family member 6 ISO mRNA:decreased expression:blood plasma (human) RGD PMID:31874165 RGD:152995482 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26599507 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:30481203 PMID:22684844 RGD:6892915 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583980 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17392301 PMID:17460043 PMID:23535734 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO DNA:deletion, missense mutations, splice-site mutations:multiple
ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | 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 term: Idiopathic fibrosing alveolitis, chronic form
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2602487 PMID:9536098 PMID:12629597 PMID:15814878 PMID:15885610 More... RGD:11038666 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tfpi tissue factor pathway inhibitor severity ISO protein:increased expression:Bronchoalveolar lavage,epithelial cell: RGD PMID:10946084 RGD:11060143 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin severity ISO RGD PMID:20418386 RGD:5685036 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8473757 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
JBrowse link
G Tppp tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,257,111...29,281,134
Ensembl chr 1:29,261,255...29,281,134
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
JBrowse link
G Wnt5a Wnt family member 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28726637 NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
JBrowse link
G Zdhhc11 zinc finger, DHHC-type containing 11 ISO ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis ClinVar PMID:12629597 PMID:28492532 NCBI chr 1:29,296,216...29,327,227
Ensembl chr 1:29,296,334...29,326,898
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Pathological Conditions, Signs and Symptoms 11356
      Pathologic Processes 7814
        Fibrosis 1510
          pulmonary fibrosis 238
            idiopathic pulmonary fibrosis 74
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      respiratory system disease 3410
        lower respiratory tract disease 2242
          lung disease 2205
            interstitial lung disease 458
              pulmonary fibrosis 238
                idiopathic pulmonary fibrosis 74
paths to the root