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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: ABCA3-RELATED CONDITION;   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: 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
CTD
ClinVar
PMID:7374344 PMID:15044640 PMID:15976379 PMID:16641205 PMID:16728712 More... NCBI chr10:13,886,948...13,944,286 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency ClinVar PMID:25741868 NCBI chr18:140,848...172,330 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          interstitial lung disease 556
            Pulmonary Surfactant Metabolism Dysfunction 3 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      respiratory system disease 5242
        lower respiratory tract disease 2354
          lung disease 2315
            pulmonary alveolar proteinosis 18
              Congenital Pulmonary Alveolar Proteinosis 9
                Pulmonary Surfactant Metabolism Dysfunction 3 2
paths to the root