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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:Surfactant Metabolism Dysfunction, Pulmonary, 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;   Pulmonary Alveolar Proteinosis, Congenital, 3;   SMDP3
 primary_id: MESH:C567046;   RDO:0015230
 alt_id: OMIM:610921
 xref: NCI:C99070
For additional species annotation, visit the Alliance of Genome Resources.


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Surfactant Metabolism Dysfunction, Pulmonary, 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 OMIM:610921
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
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          interstitial lung disease 355
            Surfactant Metabolism Dysfunction, Pulmonary, 3 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      respiratory system disease 2712
        lower respiratory tract disease 1647
          lung disease 1603
            interstitial lung disease 355
              Surfactant Metabolism Dysfunction, Pulmonary, 3 1
paths to the root