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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:Diffuse Panbronchiolitis
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Accession:DOID:9007425 term browser browse the term
Synonyms:exact_synonym: DPB;   PBLT
 primary_id: MESH:C536174;   RDO:0001646
 alt_id: OMIM:604809
 xref: NCI:C202116


show annotations for term's descendants           Sort by:
Diffuse Panbronchiolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:exon:p.G54D(rs1800450)(human) RGD PMID:15249448 RGD:8693755 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:decreased expression:bronchiole epithelium RGD PMID:15364771 RGD:7364741 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO DNA:insertion/deletion RGD PMID:15709052 RGD:7349353 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Mucl3 mucin like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22152429 NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphisms:exon: RGD PMID:10323341 RGD:5147847 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5574
        Inflammation 2768
          bronchitis 92
            bronchiolitis 78
              Diffuse Panbronchiolitis 5
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      respiratory system disease 3615
        lower respiratory tract disease 2298
          lung disease 2261
            obstructive lung disease 476
              bronchitis 92
                bronchiolitis 78
                  Diffuse Panbronchiolitis 5
paths to the root