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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;   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 ISS OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP RGD PMID:19046553 RGD:4143497 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CSF2 colony stimulating factor 2 IDA
ISS		 OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO
RGD		 PMID:21478218 PMID:9763547 PMID:11179134 RGD:5131467, RGD:10449509, RGD:10449522 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CSF2RA colony stimulating factor 2 receptor subunit alpha EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370		 CTD
MouseDO		 PMID:29484482 NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  Y:1,268,793...1,325,373
Ensembl chr  X:1,268,793...1,325,373 		JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936 		JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25913036 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G SFTPA1 surfactant protein A1 severity IEP
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 chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SFTPB surfactant protein B IEP
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 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SFTPD surfactant protein D IEP protein:increased expression:blood, lung
associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung		 RGD PMID:19046553 PMID:16849999 RGD:4143497, RGD:4143461 NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614 		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 IDA
IAGP		 ClinVar Annotator: match by term: Pulmonary surfactant protein B, deficiency of
DNA:mutations: :		 ClinVar
RGD		 PMID:7491219 PMID:9506635 PMID:9973546 PMID:10571948 PMID:24033266 More... RGD:151667445, RGD:151667447 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		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 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G RAB5B RAB5B, member RAS oncogene family IAGP ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder ClinVar PMID:25741868 PMID:35121658 NCBI chr12:55,973,949...55,996,683
Ensembl chr12:55,973,913...55,996,683 		JBrowse link
G SFTPB surfactant protein B IAGP
EXP		 ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7491219 PMID:8163685 PMID:9506635 PMID:9682215 PMID:9973546 More... NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		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 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G LOC129999976 ATAC-STARR-seq lymphoblastoid silent region 18982 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 ClinVar NCBI chr 8:22,164,628...22,165,667 JBrowse link
G SFTPC surfactant protein C IAGP
EXP		 ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 More... NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2 ClinVar PMID:10729113 PMID:10909849 PMID:19881469 PMID:20507924 PMID:24033266 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		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 IAGP
EXP		 ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency ClinVar PMID:25741868 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G LOC130058230 ATAC-STARR-seq lymphoblastoid silent region 7042 IAGP ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency ClinVar PMID:25741868 NCBI chr16:2,340,579...2,341,038 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 IAGP
EXP		 ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4
ClinVar Annotator: match by term: CSF2RA-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18955567 PMID:18955570 More... NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  Y:1,268,793...1,325,373
Ensembl chr  X:1,268,793...1,325,373 		JBrowse link
G MIR3690 microRNA 3690 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4 ClinVar PMID:18955567 NCBI chr  Y:1,293,918...1,293,992
NCBI chr  X:1,293,918...1,293,992
Ensembl chr  Y:1,293,918...1,293,992
Ensembl chr  X:1,293,918...1,293,992 		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 IAGP ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
ClinVar Annotator: match by term: CSF2RB-related condition
ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:21075760 PMID:21205713 PMID:24033266 More... NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439 		JBrowse link
G LOC126863140 BRD4-independent group 4 enhancer GRCh37_chr22:37321546-37322745 IAGP ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:36,925,504...36,926,703 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      respiratory system disease 18368
        lower respiratory tract disease 5600
          lung disease 5553
            pulmonary alveolar proteinosis 21
              Acquired Pulmonary Alveolar Proteinosis 0
              Congenital Deficiency of Pulmonary Surfactant Protein B 1
              Congenital Pulmonary Alveolar Proteinosis + 13
paths to the root