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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;   NCI:C85037;   OMIM:PS265120;   ORDO:264675
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19046553 RGD:4143497 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Csf2 colony stimulating factor 2 ISO
ISS
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO PMID:21478218, PMID:11179134, PMID:9763547 RGD:5131467, RGD:10449522, RGD:10449509 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf2ra colony stimulating factor 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29484482 NCBI chr14:1,462,292...1,467,264
Ensembl chr14:1,462,358...1,467,264
JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISS OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO NCBI chr 7:119,554,383...119,568,248
Ensembl chr 7:119,554,354...119,568,776
JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17000097 RGD:4892262 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
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 PMID:28341588 PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis ClinVar PMID:25913036 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B ISO
ISS
protein:increased expression:blood
OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370
protein:altered processing:lung
protein:increased expression:lung
MouseDO PMID:12612307, PMID:16042774, PMID:7654386 RGD:4143411, RGD:4143392, RGD:4143454 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 ISS OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 MouseDO NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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 chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
Surfactant Metabolism Dysfunction, Pulmonary, 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 chr10:13,723,365...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 null
ClinVar Annotator: match by OMIM:265120
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
Surfactant Metabolism Dysfunction, Pulmonary, 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 NCBI chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2
ClinVar Annotator: match by OMIM:610913
OMIM
ClinVar
PMID:5942662 PMID:11207353 PMID:11893657 PMID:11991887 PMID:12538769 PMID:13817571 PMID:15039969 PMID:15293602 PMID:15516475 PMID:15572558 PMID:15647591 PMID:15756222 PMID:17597647 PMID:18383112 PMID:19443464 PMID:19910179 PMID:21092132 PMID:22308375 PMID:23025826 PMID:23775869 PMID:24033266 PMID:24081995 PMID:25657025 PMID:25741868 PMID:25782673 PMID:28492532 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
Surfactant Metabolism Dysfunction, Pulmonary, 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: Surfactant metabolism dysfunction, pulmonary, 3
ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
ClinVar Annotator: match by OMIM:610921
OMIM
ClinVar
PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:17517255 PMID:17597647 PMID:17719949 PMID:18024538 PMID:18246475 PMID:18317237 PMID:18492541 PMID:18603241 PMID:18676873 PMID:20371530 PMID:20656946 PMID:21214890 PMID:22068586 PMID:22145626 PMID:22304854 PMID:22337229 PMID:22434821 PMID:22435821 PMID:22455634 PMID:22800827 PMID:22866751 PMID:22995991 PMID:23166334 PMID:24033266 PMID:24115460 PMID:24136335 PMID:24142515 PMID:24657120 PMID:24871971 PMID:25073622 PMID:25105258 PMID:25113300 PMID:25406294 PMID:25553246 PMID:25712598 PMID:25741868 PMID:26547207 PMID:27374344 PMID:27516224 PMID:27670912 PMID:28492532 PMID:28642621 PMID:29505158 NCBI chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
Surfactant Metabolism Dysfunction, Pulmonary, 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: Surfactant metabolism dysfunction, pulmonary, 4
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18955567 PMID:18955570 PMID:24033266 PMID:25425184 PMID:25741868 PMID:28492532 PMID:30124884 NCBI chr14:1,462,292...1,467,264
Ensembl chr14:1,462,358...1,467,264
JBrowse link
Surfactant Metabolism Dysfunction, Pulmonary, 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 This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614370
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5
OMIM
ClinVar
PMID:21075760 PMID:21205713 PMID:25741868 NCBI chr 7:119,554,383...119,568,248
Ensembl chr 7:119,554,354...119,568,776
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      respiratory system disease 2763
        lower respiratory tract disease 1710
          lung disease 1667
            pulmonary alveolar proteinosis 14
              Acquired Pulmonary Alveolar Proteinosis 0
              Congenital Deficiency of Pulmonary Surfactant Protein B 0
              Pulmonary Alveolar Proteinosis, Congenital 0
              Surfactant Metabolism Dysfunction, Pulmonary, 1 3
              Surfactant Metabolism Dysfunction, Pulmonary, 2 2
              Surfactant Metabolism Dysfunction, Pulmonary, 3 1
              Surfactant Metabolism Dysfunction, Pulmonary, 4 1
              Surfactant Metabolism Dysfunction, Pulmonary, 5 1
paths to the root