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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 5
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Accession:DOID:9007475 term browser browse the term
Synonyms:exact_synonym: CSF2RB DEFICIENCY;   CSF2RB-RELATED CONDITION;   PAP DUE TO CSF2RB DEFICIENCY;   SMDP5;   pulmonary alveolar proteinosis 5
 primary_id: OMIM:614370


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Pulmonary Surfactant Metabolism Dysfunction 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          interstitial lung disease 504
            Pulmonary Surfactant Metabolism Dysfunction 5 1
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
            pulmonary alveolar proteinosis 17
              Congenital Pulmonary Alveolar Proteinosis 8
                Pulmonary Surfactant Metabolism Dysfunction 5 1
paths to the root