Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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