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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: MIM:610913


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2		 OMIM
CTD
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
G Ush2a usherin ISO ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2 ClinVar PMID:10729113 PMID:10909849 PMID:19881469 PMID:20507924 PMID:24033266 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      musculoskeletal system disease 8472
        connective tissue disease 5945
          interstitial lung disease 549
            Pulmonary Surfactant Metabolism Dysfunction 2 3
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      respiratory system disease 3669
        lower respiratory tract disease 2347
          lung disease 2309
            pulmonary alveolar proteinosis 17
              Congenital Pulmonary Alveolar Proteinosis 8
                Pulmonary Surfactant Metabolism Dysfunction 2 3
paths to the root