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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 alveolar proteinosis
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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;   MONDO:0001437;   NCI:C85037;   OMIM:PS265120;   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 ISS OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19046553 RGD:4143497 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Csf2 colony stimulating factor 2 ISO
ISS		 OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO
RGD		 PMID:21478218 PMID:11179134 PMID:9763547 RGD:5131467, RGD:10449522, RGD:10449509 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf2ra colony stimulating factor 2 receptor subunit alpha ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370		 CTD
MouseDO		 PMID:29484482 NCBI chr14:98,089...103,261
Ensembl chr14:89,172...103,128 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665 		JBrowse link
G Defb5 defensin beta 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467 		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 chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25913036 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Sftpa1 surfactant protein A1 severity ISO protein:increased expression:blood
protein:altered polymerization:lung
protein:increased expression:lung		 RGD PMID:12612307 PMID:8652189 PMID:7654386 RGD:4143411, RGD:4143450, RGD:4143454 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B ISO protein:increased expression:blood
protein:increased expression:lung
protein:altered processing:lung		 RGD PMID:12612307 PMID:7654386 PMID:16042774 RGD:4143411, RGD:4143454, RGD:4143392 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25741868 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Sftpd surfactant protein D ISO protein:increased expression:blood, lung
associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung		 RGD PMID:19046553 PMID:16849999 RGD:4143497, RGD:4143461 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927 		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 DNA:mutations: : RGD PMID:28581337 PMID:10378403 RGD:151667445, RGD:151667447 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		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 chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		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 chr 7:1,109,449...1,128,348
Ensembl chr 7:1,109,454...1,128,268 		JBrowse link
G Sftpb surfactant protein B ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 More... NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		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 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: Surfactant metabolism dysfunction, pulmonary, 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
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: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18955567 PMID:18955570 More... NCBI chr14:98,089...103,261
Ensembl chr14:89,172...103,128 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        lower respiratory tract disease 2296
          lung disease 2259
            pulmonary alveolar proteinosis 17
              Acquired Pulmonary Alveolar Proteinosis 0
              Congenital Deficiency of Pulmonary Surfactant Protein B 1
              Congenital Pulmonary Alveolar Proteinosis + 8
paths to the root