Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 alveolar proteinosis
go back to main search page
Accession:DOID:12120 term browser browse the term
Definition:A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (DO)
Synonyms:exact_synonym: Pulmonary Alveolar Proteinoses
 primary_id: MESH:D011649
 xref: ICD10CM:J84.01;   ICD9CM:516.0;   MIM:PS265120;   MONDO:0001437;   NCI:C85037;   ORDO:264675
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
pulmonary alveolar proteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO RGD PMID:19046553 RGD:4143497 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G CSF2 colony stimulating factor 2 ISO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 RGD
MouseDO		 PMID:9763547 PMID:11179134 PMID:21478218 RGD:10449509 RGD:10449522 RGD:5131467 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370		 CTD
MouseDO		 PMID:29484482 NCBI chr  X:832,170...855,548
Ensembl chr  X:832,046...853,876 		JBrowse link
G DEFB1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:58,871,018...58,881,592
Ensembl chr16:58,871,018...58,881,592 		JBrowse link
G DEFB4A defensin, beta 4A ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:58,953,916...58,956,407
Ensembl chr16:58,953,916...58,956,407 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like severity ISO protein:increased expression:blood
protein:altered polymerization:lung
protein:increased expression:lung		 RGD PMID:7654386 PMID:8652189 PMID:12612307 RGD:4143411 RGD:4143450 RGD:4143454 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25913036 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G SFTPB surfactant protein B ISO protein:increased expression:lung
protein:increased expression:blood
protein:altered processing:lung		 RGD PMID:7654386 PMID:12612307 PMID:16042774 RGD:4143392 RGD:4143411 RGD:4143454 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25741868 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SFTPD surfactant protein D ISO protein:increased expression:blood, lung
associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung		 RGD PMID:16849999 PMID:19046553 RGD:4143461 RGD:4143497 NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293 		JBrowse link
Congenital Deficiency of Pulmonary Surfactant Protein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPB surfactant protein B ameliorates ISO ClinVar Annotator: match by term: Pulmonary surfactant protein B, deficiency of RGD
ClinVar		 PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:24033266 More... RGD:151667445 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 1 term browser
Symbol Object Name Qualifiers 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 chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G RAB5B RAB5B, member RAS oncogene family ISO ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder ClinVar PMID:25741868 PMID:35121658 NCBI chr10:307,693...325,766
Ensembl chr10:320,366...323,844 		JBrowse link
G SFTPB surfactant protein B ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 OMIM
ClinVar		 PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 More... NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 2 term browser
Symbol Object Name Qualifiers 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 chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545 		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 chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 3 term browser
Symbol Object Name Qualifiers 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: ABCA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies OMIM
ClinVar		 PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency ClinVar PMID:25741868 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF2RA colony stimulating factor 2 receptor subunit alpha ISO ClinVar Annotator: match by term: CSF2RA-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18955567 PMID:18955570 More... NCBI chr  X:832,170...855,548
Ensembl chr  X:832,046...853,876 		JBrowse link
Pulmonary Surfactant Metabolism Dysfunction 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF2RB colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr10:27,541,645...27,566,907
Ensembl chr10:27,541,647...27,567,278 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    disease of anatomical entity 15375
      respiratory system disease 4969
        lower respiratory tract disease 2255
          lung disease 2216
            pulmonary alveolar proteinosis 17
              Acquired Pulmonary Alveolar Proteinosis 0
              Congenital Deficiency of Pulmonary Surfactant Protein B 1
              Congenital Pulmonary Alveolar Proteinosis + 9
paths to the root