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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:Congenital Pulmonary Alveolar Proteinosis
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Accession:DOID:9006807 term browser browse the term
Synonyms:primary_id: MESH:C535832
For additional species annotation, visit the Alliance of Genome Resources.



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Pulmonary Surfactant Metabolism Dysfunction 1 term browser
Symbol Object Name 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: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 OMIM
ClinVar
PMID:7491219 PMID:8163685 PMID:9506635 PMID:10378403 PMID:10571948 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 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 ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 OMIM
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
Pulmonary Surfactant Metabolism Dysfunction 3 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 PMID:17517255 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 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 OMIM
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 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: Surfactant metabolism dysfunction, pulmonary, 5 OMIM
ClinVar
PMID:21075760 PMID:21205713 PMID:25741868 PMID:28492532 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 18145
    disease of anatomical entity 17519
      respiratory system disease 3381
        lower respiratory tract disease 2223
          lung disease 2181
            pulmonary alveolar proteinosis 16
              Congenital Pulmonary Alveolar Proteinosis 7
                Pulmonary Surfactant Metabolism Dysfunction 1 4
                Pulmonary Surfactant Metabolism Dysfunction 2 2
                Pulmonary Surfactant Metabolism Dysfunction 3 1
                Pulmonary Surfactant Metabolism Dysfunction 4 1
                Pulmonary Surfactant Metabolism Dysfunction 5 1
paths to the root