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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          interstitial lung disease 355
            Surfactant Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      respiratory system disease 2712
        lower respiratory tract disease 1647
          lung disease 1603
            interstitial lung disease 355
              Surfactant Dysfunction 1
paths to the root