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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 2
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Accession:DOID:9005976 term browser browse the term
Synonyms:exact_synonym: Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency;   Interstitial Lung Disease Due To Surfactant Protein C Deficiency;   SMDP2;   congenital pulmonary alveolar proteinosis 2
 primary_id: MESH:C567048
 alt_id: OMIM:610913
For additional species annotation, visit the Alliance of Genome Resources.



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Pulmonary Surfactant Metabolism Dysfunction 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 OMIM
ClinVar
PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 More... NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      musculoskeletal system disease 7230
        connective tissue disease 5013
          interstitial lung disease 455
            Pulmonary Surfactant Metabolism Dysfunction 2 2
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      respiratory system disease 3394
        lower respiratory tract disease 2237
          lung disease 2196
            pulmonary alveolar proteinosis 16
              Congenital Pulmonary Alveolar Proteinosis 7
                Pulmonary Surfactant Metabolism Dysfunction 2 2
paths to the root