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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 ISO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427 		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 chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146 		JBrowse link
G DEFB1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr 8:403,268...410,712
Ensembl chr 8:6,874,235...6,881,631 		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 chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		JBrowse link
G LOC103783265 pulmonary surfactant-associated protein A1 severity ISO protein:increased expression:lung
protein:increased expression:blood
protein:altered polymerization:lung		 RGD PMID:7654386 PMID:8652189 PMID:12612307 RGD:4143411 RGD:4143450 RGD:4143454 NCBI chr10:76,571,312...76,575,820 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25913036 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839 		JBrowse link
G SFTPB surfactant protein B ISO protein:altered processing:lung
protein:increased expression:blood
protein:increased expression:lung		 RGD PMID:7654386 PMID:12612307 PMID:16042774 RGD:4143392 RGD:4143411 RGD:4143454 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25741868 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		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 chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181 		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 chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427 		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 chr12:32,916,314...32,939,047
Ensembl chr12:33,168,254...33,188,676 		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 chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 ClinVar PMID:25741868 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		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 chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796 		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 chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		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 chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427 		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:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317 		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 chr22:17,831,313...17,858,272
Ensembl chr22:35,666,734...35,693,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      respiratory system disease 4887
        lower respiratory tract disease 2199
          lung disease 2159
            pulmonary alveolar proteinosis 14
              Acquired Pulmonary Alveolar Proteinosis 0
              Congenital Deficiency of Pulmonary Surfactant Protein B 1
              Congenital Pulmonary Alveolar Proteinosis + 8
paths to the root