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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal pulmonary thoracic imaging finding
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Accession:HP:0031983 term browser browse the term
Definition:This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.
Synonyms:exact_synonym: Abnormal chest radiograph finding (lung)



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Air bronchogram term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYBB cytochrome b-245 beta chain IAGP OMIM:306400 HPO NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
Atelectasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ORPHA:70587 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ORPHA:333 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:536467 HPO NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G CCDC103 coiled-coil domain containing 103 IAGP ORPHA:244 HPO NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
JBrowse link
G CCDC39 coiled-coil domain containing 39 IAGP ORPHA:244 HPO NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
JBrowse link
G CCDC40 coiled-coil domain containing 40 IAGP ORPHA:244 HPO NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP ORPHA:244 HPO NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
JBrowse link
G CCNO cyclin O IAGP OMIM:615872 ORPHA:244 HPO NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP ORPHA:244 HPO NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP ORPHA:244 HPO NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP ORPHA:244 HPO NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP ORPHA:51636 HPO NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP OMIM:306400 HPO NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP ORPHA:244 HPO NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP ORPHA:244 HPO NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ORPHA:244 HPO NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ORPHA:244 HPO NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ORPHA:244 HPO NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP ORPHA:244 HPO NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP ORPHA:244 HPO NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ORPHA:244 HPO NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ORPHA:244 HPO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ORPHA:244 HPO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ORPHA:244 HPO NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ORPHA:244 HPO NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP ORPHA:244 HPO NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP ORPHA:244 HPO NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP ORPHA:244 HPO NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP OMIM:615294 ORPHA:244 HPO NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FOXJ1 forkhead box J1 IAGP ORPHA:244 HPO NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP ORPHA:244 HPO NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
JBrowse link
G GAS8 growth arrest specific 8 IAGP OMIM:616726 ORPHA:244 HPO NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ORPHA:244 HPO NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ORPHA:258 HPO NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ORPHA:244 HPO NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP ORPHA:244 HPO NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
JBrowse link
G NEK10 NIMA related kinase 10 IAGP ORPHA:244 HPO NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP OMIM:618278 HPO NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NME8 NME/NM23 family member 8 IAGP ORPHA:244 HPO NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ORPHA:534 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP OMIM:615067 ORPHA:244 HPO NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP ORPHA:244 HPO NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ORPHA:244 HPO NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP ORPHA:244 HPO NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ORPHA:244 HPO NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PAX3 paired box 3 IAGP ORPHA:896 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ORPHA:1401 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP OMIM:300455 ORPHA:244 HPO NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RSPH1 radial spoke head component 1 IAGP ORPHA:244 HPO NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
JBrowse link
G RSPH3 radial spoke head 3 IAGP ORPHA:244 HPO NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G RSPH4A radial spoke head component 4A IAGP ORPHA:244 HPO NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
JBrowse link
G RSPH9 radial spoke head component 9 IAGP ORPHA:244 HPO NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SFTPB surfactant protein B IAGP ORPHA:70587 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP ORPHA:70587 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SPAG1 sperm associated antigen 1 IAGP ORPHA:244 HPO NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
JBrowse link
G SPEF2 sperm flagellar 2 IAGP ORPHA:244 HPO NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:2314 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STK36 serine/threonine kinase 36 IAGP ORPHA:244 HPO NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TP73 tumor protein p73 IAGP OMIM:619466 HPO NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ORPHA:538 HPO NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ORPHA:538 HPO NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP ORPHA:244 HPO NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP ORPHA:244 HPO NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
JBrowse link
Centrilobular ground-glass opacification on pulmonary HRCT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP OMIM:265450 HPO NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP OMIM:234810 ORPHA:199241 HPO NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
Combined cystic and ground-glass pattern on pulmonary HRCT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
Crazy paving pattern term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP ORPHA:264675 HPO NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP ORPHA:264675 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:747 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
Cystic pattern on pulmonary HRCT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Diffuse reticular or finely nodular infiltrations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ORPHA:333 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP OMIM:257200 OMIM:607616 HPO NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
Ground-glass opacification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ORPHA:2032 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP ORPHA:2032 HPO NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha IAGP OMIM:300770 HPO NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  X:1,268,800...1,310,381
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP OMIM:614370 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP ORPHA:2032 HPO NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP ORPHA:2032 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP ORPHA:2032 HPO NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:133 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP OMIM:619773 HPO NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ORPHA:2032 HPO NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ORPHA:2032 HPO NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ORPHA:2032 HPO NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SFTPA1 surfactant protein A1 IAGP ORPHA:2032 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP ORPHA:2032 HPO NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPB surfactant protein B IAGP OMIM:265120 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SFTPC surfactant protein C IAGP ORPHA:2032 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP ORPHA:60025 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G STN1 STN1 subunit of CST complex IAGP ORPHA:2032 HPO NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP ORPHA:2032 HPO NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP ORPHA:2032 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Interlobular septal thickening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP OMIM:265450 HPO NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G CSF2RB colony stimulating factor 2 receptor subunit beta IAGP OMIM:614370 HPO NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ORPHA:199241 HPO NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G SFTPA1 surfactant protein A1 IAGP OMIM:619611 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPB surfactant protein B IAGP OMIM:265120 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP ORPHA:60025 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Intralobular septal thickening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPA1 surfactant protein A1 IAGP OMIM:619611 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
Mediastinal mass term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1B kinesin family member 1B IAGP OMIM:256700 HPO NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
Nodular pattern on pulmonary HRCT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP OMIM:610921 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ORPHA:333 HPO NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
Organizing pneumonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP OMIM:241600 HPO NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
Parenchymal consolidation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
Pulmonary infiltrates term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP ORPHA:158029 HPO NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G BACH2 BTB domain and CNC homolog 2 IAGP OMIM:618394 HPO NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP ORPHA:52417 HPO NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G BCL11A BCL11 transcription factor A IAGP ORPHA:251380 HPO NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 IAGP ORPHA:52417 HPO NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,450...102,339,403
JBrowse link
G BTNL2 butyrophilin like 2 IAGP OMIM:612387 HPO NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CASP10 caspase 10 IAGP ORPHA:3261 HPO NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CAV1 caveolin 1 IAGP ORPHA:220393 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCN2 cellular communication network factor 2 IAGP ORPHA:220393 HPO NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP ORPHA:220393 HPO NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ORPHA:900 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP OMIM:616433 HPO NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 ORPHA:3261 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP ORPHA:3261 HPO NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FOXP1 forkhead box P1 IAGP ORPHA:52417 HPO NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP OMIM:230800 HPO NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HBB hemoglobin subunit beta IAGP ORPHA:251380 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP ORPHA:251380 HPO NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857
JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP ORPHA:251380 HPO NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:117 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP ORPHA:900 HPO NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:900 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP OMIM:181000 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP OMIM:209950 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IGH immunoglobulin heavy locus IAGP ORPHA:52417 HPO NCBI chr14:105,586,437...106,879,844 JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP OMIM:606367 HPO NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ORPHA:220393 HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G KLF1 KLF transcription factor 1 IAGP ORPHA:251380 HPO NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G LPIN2 lipin 2 IAGP ORPHA:77297 HPO NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
JBrowse link
G MALT1 MALT1 paracaspase IAGP ORPHA:52417 HPO NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ORPHA:117 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ORPHA:33226 HPO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP OMIM:610978 HPO NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP OMIM:607685 HPO NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PRIM1 DNA primase subunit 1 IAGP OMIM:620005 HPO NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,731,296...56,752,374
JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:3261 HPO NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRTN3 proteinase 3 IAGP ORPHA:900 HPO NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:900 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP ORPHA:79477 HPO NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP ORPHA:3261 HPO NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SFTPB surfactant protein B IAGP ORPHA:217563 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP ORPHA:60025 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SLC41A1 solute carrier family 41 member 1 IAGP OMIM:619468 HPO NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ORPHA:538 HPO NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ORPHA:538 HPO NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP OMIM:301054 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
Pulmonary interstitial high-resolution computed tomography abnormality term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:repeat, polymorphism:promoter, intron: RGD PMID:17876529 RGD:5684940 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
Pulmonary nodule term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAT1 signal transducer and activator of transcription 1 IAGP OMIM:614162 HPO NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
Pulmonary opacity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPB surfactant protein B IAGP ORPHA:217563 HPO NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
JBrowse link
Reticular pattern on pulmonary HRCT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ORPHA:2032 HPO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP ORPHA:2032 HPO NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP ORPHA:2032 HPO NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G DSP desmoplakin IAGP ORPHA:2032 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G FAM13A family with sequence similarity 13 member A IAGP ORPHA:2032 HPO NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ORPHA:2032 HPO NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP ORPHA:2032 HPO NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ORPHA:2032 HPO NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SFTPA1 surfactant protein A1 IAGP ORPHA:2032 HPO NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
JBrowse link
G SFTPA2 surfactant protein A2 IAGP ORPHA:2032 HPO NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
JBrowse link
G SFTPC surfactant protein C IAGP ORPHA:2032 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link
G STN1 STN1 subunit of CST complex IAGP ORPHA:2032 HPO NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
G TERC telomerase RNA component IAGP ORPHA:2032 HPO NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP OMIM:614742 HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
Reticulonodular pattern on pulmonary HRCT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:133 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the respiratory system 2358
        Abnormal respiratory system morphology 1487
          Abnormal pulmonary thoracic imaging finding 150
            Air bronchogram 1
            Air crescent 0
            Air trapping 0
            Apical pulmonary opacity 0
            Atelectasis + 74
            Beaded septum sign 0
            Bronchocele 0
            Broncholith 0
            Continuous diaphragm sign 0
            Expiratory air trapping 0
            Mass on thoracic imaging + 1
            Organizing pneumonia 1
            Progressive massive fibrosis 0
            Pulmonary blood flow redistribution 0
            Pulmonary cavity + 0
            Pulmonary imaging sign + 0
            Pulmonary infiltrates + 59
            Pulmonary interstitial high-resolution computed tomography abnormality + 26
            Pulmonary mycetoma 0
            Pulmonary nodule + 1
            Pulmonary oligemia 0
            Pulmonary opacity + 24
            Pulmonary pseudocavity 0
paths to the root