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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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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 ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr19:19,614,719...19,642,546
Ensembl chr19:19,624,234...19,640,617 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      musculoskeletal system disease 7877
        connective tissue disease 5411
          interstitial lung disease 512
            Pulmonary Surfactant Metabolism Dysfunction 5 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      respiratory system disease 4784
        lower respiratory tract disease 2150
          lung disease 2110
            pulmonary alveolar proteinosis 13
              Congenital Pulmonary Alveolar Proteinosis 8
                Pulmonary Surfactant Metabolism Dysfunction 5 1
paths to the root