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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:emphysema
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Accession:MP:0001958 term browser browse the term
Definition:an abnormal condition of the lung characterized by permanent enlargement of airspaces distal to the terminal bronchioles, accompanied by destruction of their walls and without obvious fibrosis; results in decreased respiratory function including increased air retention and reduced exchange of gases
Synonyms:xref: EFO:0000464;   HP:0002097


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emphysema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP MGI PMID:16556917 NCBI chr11:50,492,912...50,698,400
Ensembl chr11:50,492,911...50,698,400 		JBrowse link
G Adgrf5 adhesion G protein-coupled receptor F5 IAGP MGI PMID:23922714 NCBI chr17:43,671,225...43,770,448
Ensembl chr17:43,671,342...43,770,448 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit IAGP MGI PMID:12777251 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin IAGP MGI PMID:8441253 NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		JBrowse link
G Casp3 caspase 3 IAGP MGI PMID:15944319 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IAGP MGI PMID:9655498 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) IAGP MGI PMID:8202532 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Ctss cathepsin S IAGP MGI PMID:15944319 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Dbnl drebrin-like IAGP MGI PMID:16601697 NCBI chr11:5,730,233...5,750,980
Ensembl chr11:5,738,488...5,750,962 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 IAGP MGI PMID:16478991 NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Eln elastin IAGP MGI PMID:10970822 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fbln5 fibulin 5 IAGP MGI PMID:11805834 PMID:11805835 NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
G Fbn1 fibrillin 1 IAGP MGI PMID:176891 PMID:1587342 PMID:6562869 PMID:7271067 PMID:9326947 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fgf23 fibroblast growth factor 23 IAGP MGI PMID:21427221 NCBI chr 6:127,049,865...127,059,257
Ensembl chr 6:127,049,865...127,058,371 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:9716527 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 IAGP MGI PMID:9716527 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Flna filamin, alpha IAGP MGI PMID:17172441 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Fstl1 follistatin-like 1 IAGP MGI PMID:31834999 NCBI chr16:37,597,417...37,656,878
Ensembl chr16:37,597,235...37,656,876 		JBrowse link
G Fut8 fucosyltransferase 8 IAGP MGI PMID:16236725 NCBI chr12:77,284,878...77,522,770
Ensembl chr12:77,284,899...77,523,112 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 IAGP MGI PMID:29999500 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:23263861 PMID:29999500 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294 		JBrowse link
G Hck hemopoietic cell kinase IAGP MGI PMID:12208875 NCBI chr 2:152,950,388...152,993,361
Ensembl chr 2:152,950,388...152,993,361 		JBrowse link
G Hikeshi heat shock protein nuclear import factor IAGP MGI PMID:16157679 NCBI chr 7:89,567,893...89,590,446
Ensembl chr 7:89,566,737...89,590,412 		JBrowse link
G Hmgn5 high-mobility group nucleosome binding domain 5 IAGP MGI PMID:23620591 NCBI chr  X:108,048,143...108,056,986
Ensembl chr  X:108,048,140...108,057,010 		JBrowse link
G Hoxa5 homeobox A5 IAGP MGI PMID:17003488 PMID:17417799 NCBI chr 6:52,178,768...52,181,437
Ensembl chr 6:52,178,734...52,181,567 		JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 IAGP MGI PMID:12777251 NCBI chr19:42,743,629...42,770,013
Ensembl chr19:42,743,544...42,768,417 		JBrowse link
G Ifng interferon gamma IAGP MGI PMID:17400729 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il4 interleukin 4 IAGP MGI PMID:10486156 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Itgb6 integrin beta 6 IAGP MGI PMID:12634787 NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987 		JBrowse link
G Jun jun proto-oncogene IAGP MGI PMID:22265050 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Kl klotho IAGP MGI PMID:9363890 PMID:10615062 PMID:21427221 PMID:25860694 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Lipa lysosomal acid lipase A IAGP MGI PMID:14644759 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874 		JBrowse link
G Lox lysyl oxidase IAGP MGI PMID:16192629 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 IAGP MGI PMID:8710893 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 IAGP MGI PMID:12208849 PMID:12904583 PMID:20106877 PMID:25713297 NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP MGI PMID:2806196 NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Met met proto-oncogene IAGP MGI PMID:29999500 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit IAGP MGI PMID:25255451 NCBI chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430 		JBrowse link
G Nisch nischarin IAGP MGI PMID:28806779 NCBI chr14:30,892,885...30,928,783
Ensembl chr14:30,892,887...30,938,903 		JBrowse link
G Npas3 neuronal PAS domain protein 3 IAGP MGI PMID:19581591 NCBI chr12:53,294,874...54,118,956
Ensembl chr12:53,294,940...54,118,958 		JBrowse link
G Pald1 phosphatase domain containing, paladin 1 IAGP MGI PMID:29133847 NCBI chr10:61,155,435...61,219,325
Ensembl chr10:61,155,435...61,219,309 		JBrowse link
G Pdgfa platelet derived growth factor, alpha IAGP MGI PMID:8681381 PMID:23938297 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IAGP MGI PMID:11782318 PMID:23938297 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Rgn regucalcin IAGP MGI PMID:16728709 NCBI chr  X:20,413,980...20,428,328
Ensembl chr  X:20,416,026...20,428,328 		JBrowse link
G Sfrp4 secreted frizzled-related protein 4 IAGP MGI PMID:21427221 NCBI chr13:19,807,345...19,816,995
Ensembl chr13:19,807,274...19,817,164 		JBrowse link
G Sftpc surfactant associated protein C IAGP MGI PMID:12519727 PMID:29999500 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Sftpd surfactant associated protein D IAGP MGI PMID:10801980 PMID:15310555 NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106 		JBrowse link
G Smn1 survival motor neuron 1 IAGP MGI PMID:23263861 NCBI chr13:100,259,713...100,274,206
Ensembl chr13:100,261,360...100,274,198 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IAGP MGI PMID:22945695 NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 IAGP MGI PMID:10486156 NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		JBrowse link
G Stk3 serine/threonine kinase 3 IAGP MGI PMID:23620511 NCBI chr15:34,875,645...35,155,990
Ensembl chr15:34,875,642...35,179,067 		JBrowse link
G Stk4 serine/threonine kinase 4 IAGP MGI PMID:23620511 NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444 		JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) IAGP MGI PMID:18343975 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731 		JBrowse link
G Vegfa vascular endothelial growth factor A IAGP MGI PMID:20167862 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 IAGP MGI PMID:17636028 PMID:18172001 PMID:19498055 NCBI chr 3:57,363,065...57,483,331
Ensembl chr 3:57,363,070...57,483,331 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16965
    respiratory system phenotype 1866
      abnormal respiratory system physiology 1111
        emphysema 55
Path 2
Term Annotations click to browse term
  mammalian phenotype 16965
    respiratory system phenotype 1866
      abnormal respiratory system morphology 1287
        abnormal lung morphology 839
          abnormal pulmonary alveolar system morphology 378
            abnormal pulmonary acinus morphology 364
              emphysema 55
paths to the root