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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:Surfactant Dysfunction
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Accession:DOID:9003953 term browser browse the term
Synonyms:exact_synonym: Interstitial Lung Disease Due To Surfactant Deficiency;   Pulmonary Surfactant Metabolism Dysfunction;   Surfactant Metabolism Deficiency
 narrow_synonym: PULMONARY SURFACTANT METABOLISM DYSFUNCTION, RECESSIVE
 primary_id: MESH:C580477;   RDO:0015934


show annotations for term's descendants           Sort by:
Surfactant Dysfunction 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 ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction
ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction		 ClinVar PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:24033266 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G SFTPB surfactant protein B IAGP ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:10712351 More... 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 ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:11893657 PMID:14735158 PMID:15039969 PMID:15293602 PMID:15516475 More... NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    disease of anatomical entity 32521
      musculoskeletal system disease 11831
        connective tissue disease 7586
          interstitial lung disease 534
            Surfactant Dysfunction 4
Path 2
Term Annotations click to browse term
  disease 35757
    disease of anatomical entity 32521
      respiratory system disease 4157
        lower respiratory tract disease 2552
          lung disease 2506
            interstitial lung disease 534
              Surfactant Dysfunction 4
paths to the root