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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:Surfactant Metabolism Dysfunction, Pulmonary, 5
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Accession:DOID:9007475 term browser browse the term
Synonyms:exact_synonym: CSF2RB DEFICIENCY;   PAP DUE TO CSF2RB DEFICIENCY;   PULMONARY ALVEOLAR PROTEINOSIS 5;   SMDP5
 primary_id: OMIM:614370;   RDO:9000832
For additional species annotation, visit the Alliance of Genome Resources.


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Surfactant Metabolism Dysfunction, Pulmonary, 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 This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614370
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
OMIM
ClinVar
PMID:21075760 PMID:21205713 PMID:25741868 NCBI chr 7:119,554,383...119,568,248
Ensembl chr 7:119,554,354...119,568,776
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          interstitial lung disease 355
            Surfactant Metabolism Dysfunction, Pulmonary, 5 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      respiratory system disease 2712
        lower respiratory tract disease 1647
          lung disease 1603
            interstitial lung disease 355
              Surfactant Metabolism Dysfunction, Pulmonary, 5 1
paths to the root