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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, 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;   Pulmonary Alveolar Proteinosis, Congenital, 2;   SMDP2
 primary_id: MESH:C567048;   RDO:0015231
 alt_id: OMIM:610913
For additional species annotation, visit the Alliance of Genome Resources.


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Surfactant Metabolism Dysfunction, Pulmonary, 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 NCBI chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
ClinVar Annotator: match by OMIM:610913
OMIM
ClinVar
PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 PMID:13817571 PMID:15039969 PMID:15293602 PMID:15516475 PMID:15572558 PMID:15647591 PMID:15756222 PMID:17597647 PMID:18383112 PMID:19443464 PMID:19910179 PMID:21092132 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:25657025 PMID:25741868 PMID:25782673 PMID:28492532 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link

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, 2 2
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, 2 2
paths to the root