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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;   PAP DUE TO CSF2RB DEFICIENCY;   SMDP5;   pulmonary alveolar proteinosis 5
 primary_id: OMIM:614370
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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: Surfactant metabolism dysfunction, pulmonary, 5 OMIM
ClinVar
PMID:21075760 PMID:21205713 PMID:25741868 PMID:28492532 NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        connective tissue disease 4971
          interstitial lung disease 454
            Pulmonary Surfactant Metabolism Dysfunction 5 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      respiratory system disease 3373
        lower respiratory tract disease 2216
          lung disease 2174
            pulmonary alveolar proteinosis 16
              Congenital Pulmonary Alveolar Proteinosis 7
                Pulmonary Surfactant Metabolism Dysfunction 5 1
paths to the root