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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 ISO 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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Sftpb surfactant protein B ISO ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:10712351 More... NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction ClinVar PMID:11893657 PMID:14735158 PMID:15039969 PMID:15293602 PMID:15516475 More... NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          interstitial lung disease 554
            Surfactant Dysfunction 4
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      respiratory system disease 5241
        lower respiratory tract disease 2357
          lung disease 2318
            interstitial lung disease 554
              Surfactant Dysfunction 4
paths to the root