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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:bronchopulmonary dysplasia
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Accession:DOID:11650 term browser browse the term
Definition:A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. (DO)
Synonyms:exact_synonym: Chronic lung disease of prematurity;   Neonatal chronic lung disease;   bronchopulmonary dysplasia of newborn;   bronchopulmonary dysplasias;   neonatal chronic respiratory disease;   perinatal bronchopulmonary dysplasia
 primary_id: MESH:D001997
 alt_id: DOID:9001403
 xref: ICD10CM:P27.1;   MONDO:0019091;   NCI:C90599
For additional species annotation, visit the Alliance of Genome Resources.


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bronchopulmonary dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator IEP RGD PMID:26431790 RGD:11537057 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429 		JBrowse link
G Bid BH3 interacting domain death agonist IEP RGD PMID:26431790 RGD:11537057 NCBI chr 4:155,785,366...155,808,775
Ensembl chr 4:155,785,377...155,808,275 		JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26431790 RGD:11537057 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26431790 RGD:11537057 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699 		JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26431790 RGD:11537057 Ensembl chr 5:159,391,188...159,409,648 JBrowse link
G Cat catalase IDA RGD PMID:19693467 RGD:5130750 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:16888287 RGD:5130981 NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,514,091...67,515,947 		JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:20050784 RGD:5131185 NCBI chr12:6,732,890...6,741,757
Ensembl chr12:6,733,287...6,741,808 		JBrowse link
G Cd209d CD209d molecule ISO RGD PMID:20050784 RGD:5131185 NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:decreased secretion:lung, secretion (human) RGD PMID:20558631 RGD:4892651 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:48,193,800...48,201,825 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:19951473 RGD:5134972 NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811 		JBrowse link
G Dag1 dystroglycan 1 ISO DNA:SNP: :p.N494H (human) RGD PMID:17196572 RGD:11537474 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199 		JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:lung (rat) RGD PMID:20647310 RGD:4144841 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment IEP RGD PMID:23065129 RGD:10395385 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22003089 RGD:10402122 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:24120392 RGD:12792215 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (human) RGD PMID:14726935 RGD:4142520 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:24120392 RGD:12792215 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates ISO RGD PMID:33285606 RGD:242905194 NCBI chr 1:207,160,175...207,162,851 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP RGD PMID:23065129 PMID:26431790 RGD:10395385, RGD:11537057 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16813970 PMID:15539764 RGD:4143172 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO protein:increased expression:lung
associated with Premature Birth;DNA:polymorphism:: 		RGD PMID:15539764 PMID:22882323 RGD:4143172, RGD:12910846 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Bronchopulmonary dysplasia of newborn ClinVar PMID:25741868 NCBI chr10:80,486,998...80,522,548
Ensembl chr10:80,486,999...80,518,901 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Premature Birth;DNA:polymorphism:exon: RGD PMID:22882323 RGD:12910846 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung RGD PMID:18097062 RGD:4891007 NCBI chr20:12,767,138...12,791,222
Ensembl chr 4:134,041,774...134,042,121
Ensembl chr20:134,041,774...134,042,121 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19097983 RGD:5129685 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO protein:increased expression:cord plasma RGD PMID:18025794 RGD:5131170 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491 		JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO DNA:SNPs:promoter: (rs2233406, rs2233409) (human) RGD PMID:23487427 RGD:40902982 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072 		JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363622 NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:140,677,754...140,709,300 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO RGD PMID:11435254 RGD:5144211 NCBI chr 1:215,406,138...215,409,686
Ensembl chr 1:215,406,138...215,409,686 		JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Premature Birth;protein:increased expression:blood: RGD PMID:25140773 RGD:13208551 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:snps, haplotypes:multiple (human)
DNA:polymorphisms, haplotype: (human) 		RGD PMID:17264398 PMID:11105614 RGD:4143384, RGD:4144876 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769 		JBrowse link
G Sftpb surfactant protein B susceptibility ISO DNA:deletion:intron (human)
DNA:polymorphism:intron (human)
DNA:SNPs:5'UTR,exon: 		RGD PMID:15102713 PMID:12424586 PMID:17264398 PMID:26045806 RGD:4143405, RGD:4143418, RGD:4143384, RGD:11085373 NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646 		JBrowse link
G Sftpd surfactant protein D ISO RGD PMID:17264398 RGD:4143384 NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,080,567...17,094,036 		JBrowse link
G Tnf tumor necrosis factor severity
no_association 		ISO DNA:SNP:promoter:-238A>G (human)
DNA:SNP:promoter:-308G>A (human) 		RGD PMID:15286263 PMID:15286263 RGD:12904049, RGD:12904049 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tp53 tumor protein p53 IEP RGD PMID:26431790 RGD:11537057 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20812253 NCBI chr 5:77,507,455...77,519,685
Ensembl chr 5:77,507,321...77,520,307 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) RGD PMID:24796371 RGD:13432055 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Wounds and Injuries 1005
      Thoracic Injuries 315
        Lung Injury 309
          Ventilator-Induced Lung Injury 56
            bronchopulmonary dysplasia 38
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        lower respiratory tract disease 2352
          lung disease 2314
            Lung Injury 309
              Ventilator-Induced Lung Injury 56
                bronchopulmonary dysplasia 38
paths to the root