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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:Pulmonary Surfactant Metabolism Dysfunction 1
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Accession:DOID:9001026 term browser browse the term
Synonyms:exact_synonym: Interstitial Lung Disease Due To Surfactant Protein B Deficiency;   SMDP1;   congenital pulmonary alveolar proteinosis 1;   nonspecific interstitial lung disease due to surfactant protein B deficiency
 narrow_synonym: RAB5B-ASSOCIATED SURFACTANT DYSFUNCTION DISORDER
 primary_id: MESH:C566882
 alt_id: OMIM:265120
 xref: NCI:C99068


show annotations for term's descendants           Sort by:
Pulmonary Surfactant Metabolism Dysfunction 1 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: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Rab5b RAB5B, member RAS oncogene family ISO ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder ClinVar PMID:25741868 PMID:35121658 NCBI chr 7:1,109,449...1,128,348
Ensembl chr 7:1,109,454...1,128,268 		JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1		 OMIM
CTD
ClinVar		 PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 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: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 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 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          interstitial lung disease 503
            Pulmonary Surfactant Metabolism Dysfunction 1 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        lower respiratory tract disease 2296
          lung disease 2259
            pulmonary alveolar proteinosis 17
              Congenital Pulmonary Alveolar Proteinosis 8
                Pulmonary Surfactant Metabolism Dysfunction 1 4
paths to the root