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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: MIM:614370

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      musculoskeletal system disease 7406
        connective tissue disease 5075
          interstitial lung disease 477
            Pulmonary Surfactant Metabolism Dysfunction 5 0
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      respiratory system disease 4524
        lower respiratory tract disease 2027
          lung disease 1988
            pulmonary alveolar proteinosis 12
              Congenital Pulmonary Alveolar Proteinosis 7
                Pulmonary Surfactant Metabolism Dysfunction 5 0
paths to the root