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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 Surfactant Metabolism Dysfunction 3
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Accession:DOID:9000122 term browser browse the term
Synonyms:exact_synonym: Interstitial Lung Disease Due To ABCA3 Deficiency;   PRIMARY INTERSTITIAL LUNG DISEASE SPECIFIC TO CHILDHOOD DUE TO PULMONARY SURFACTANT PROTEIN ANOMALIES;   SMDP3;   congenital pulmonary alveolar proteinosis 3
 primary_id: MESH:C567046
 alt_id: MIM:610921
 xref: NCI:C99070


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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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      musculoskeletal system disease 8466
        connective tissue disease 5940
          interstitial lung disease 549
            Pulmonary Surfactant Metabolism Dysfunction 3 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      respiratory system disease 3661
        lower respiratory tract disease 2344
          lung disease 2306
            pulmonary alveolar proteinosis 17
              Congenital Pulmonary Alveolar Proteinosis 8
                Pulmonary Surfactant Metabolism Dysfunction 3 1
paths to the root