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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 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
ClinVar Annotator: match by term: CSF2RB-related condition
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439 		JBrowse link
G LOC126863140 BRD4-independent group 4 enhancer GRCh37_chr22:37321546-37322745 IAGP ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:36,925,504...36,926,703 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      musculoskeletal system disease 20999
        connective tissue disease 15994
          interstitial lung disease 732
            Pulmonary Surfactant Metabolism Dysfunction 5 2
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      respiratory system disease 16797
        lower respiratory tract disease 5478
          lung disease 5431
            pulmonary alveolar proteinosis 20
              Congenital Pulmonary Alveolar Proteinosis 12
                Pulmonary Surfactant Metabolism Dysfunction 5 2
paths to the root