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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, 1
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Accession:DOID:9001026 term browser browse the term
Synonyms:exact_synonym: Interstitial Lung Disease Due To Surfactant Protein B Deficiency;   Interstitial Lung Disease, Nonspecific, Due To Surfactant Protein B Deficiency;   Pulmonary Alveolar Proteinosis, Congenital, 1;   SMDP1
 primary_id: MESH:C566882;   RDO:0015098
 alt_id: OMIM:265120
 xref: NCI:C99068
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Surfactant Metabolism Dysfunction, Pulmonary, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Sftpb surfactant protein B ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
ClinVar Annotator: match by OMIM:265120
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7491219 PMID:8163685 PMID:9506635 PMID:10378403 PMID:10571948 PMID:10960490 PMID:21965505 PMID:23625987 PMID:24033266 PMID:25741868 PMID:26199800 PMID:28492532 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 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 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          interstitial lung disease 354
            Surfactant Metabolism Dysfunction, Pulmonary, 1 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      respiratory system disease 2708
        lower respiratory tract disease 1646
          lung disease 1602
            interstitial lung disease 354
              Surfactant Metabolism Dysfunction, Pulmonary, 1 3
paths to the root