ONTOLOGY REPORT - ANNOTATIONS


Term:pulmonary alveolar proteinosis
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Accession:DOID:12120 term browser browse the term
Definition:A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.
Synonyms:exact_synonym: Pulmonary Alveolar Proteinoses
 primary_id: MESH:D011649
 alt_id: RDO:0001159
 xref: OMIM:PS265120;   ORDO:264675
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pulmonary alveolar proteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca3 ATP binding cassette subfamily A member 3 JBrowse link 10 13,723,365 13,780,558 RGD:13592920
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:4143497
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:5131467
RGD:13592920
RGD:10449522
RGD:10449509
G Csf2ra colony stimulating factor 2 receptor alpha subunit JBrowse link 14 1,462,292 1,467,264 RGD:11554173
G Csf2rb colony stimulating factor 2 receptor beta common subunit JBrowse link 7 119,554,383 119,568,248 RGD:13592920
G Defb1 defensin beta 1 JBrowse link 16 75,294,385 75,309,127 RGD:4892262
G Defb4 defensin beta 4 JBrowse link 16 75,634,598 75,637,789 RGD:4892262
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Mars methionyl-tRNA synthetase JBrowse link 7 70,585,011 70,602,425 RGD:8554872
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143411
RGD:4143450
RGD:4143454
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143411
RGD:13592920
RGD:4143392
RGD:4143454
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:13592920
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143497
RGD:4143461
Surfactant Metabolism Dysfunction, Pulmonary, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca3 ATP binding cassette subfamily A member 3 JBrowse link 10 13,723,365 13,780,558 RGD:8554872
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:7240710
RGD:8554872
Surfactant Metabolism Dysfunction, Pulmonary, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:7240710
RGD:8554872
Surfactant Metabolism Dysfunction, Pulmonary, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca3 ATP binding cassette subfamily A member 3 JBrowse link 10 13,723,365 13,780,558 RGD:7240710
RGD:8554872
Surfactant Metabolism Dysfunction, Pulmonary, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2ra colony stimulating factor 2 receptor alpha subunit JBrowse link 14 1,462,292 1,467,264 RGD:7240710
RGD:8554872
Surfactant Metabolism Dysfunction, Pulmonary, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2rb colony stimulating factor 2 receptor beta common subunit JBrowse link 7 119,554,383 119,568,248 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      respiratory system disease 2375
        lung disease 1370
          pulmonary alveolar proteinosis 13
            Acquired Pulmonary Alveolar Proteinosis 0
            Congenital Deficiency of Pulmonary Surfactant Protein B 0
            Pulmonary Alveolar Proteinosis, Congenital 0
            Surfactant Metabolism Dysfunction, Pulmonary, 1 2
            Surfactant Metabolism Dysfunction, Pulmonary, 2 1
            Surfactant Metabolism Dysfunction, Pulmonary, 3 1
            Surfactant Metabolism Dysfunction, Pulmonary, 4 1
            Surfactant Metabolism Dysfunction, Pulmonary, 5 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      respiratory system disease 2375
        lower respiratory tract disease 1412
          lung disease 1370
            pulmonary alveolar proteinosis 13
              Acquired Pulmonary Alveolar Proteinosis 0
              Congenital Deficiency of Pulmonary Surfactant Protein B 0
              Pulmonary Alveolar Proteinosis, Congenital 0
              Surfactant Metabolism Dysfunction, Pulmonary, 1 2
              Surfactant Metabolism Dysfunction, Pulmonary, 2 1
              Surfactant Metabolism Dysfunction, Pulmonary, 3 1
              Surfactant Metabolism Dysfunction, Pulmonary, 4 1
              Surfactant Metabolism Dysfunction, Pulmonary, 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.