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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, 4
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Accession:DOID:9005853 term browser browse the term
Synonyms:exact_synonym: CSF2RA Deficiency;   PAP due to CSF2RA Deficiency;   Pulmonary Alveolar Proteinosis, Congenital, 4;   SMDP4
 primary_id: MESH:C567461;   RDO:0015525
 alt_id: OMIM:300770
For additional species annotation, visit the Alliance of Genome Resources.


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Surfactant Metabolism Dysfunction, Pulmonary, 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 null
ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4
OMIM
ClinVar
PMID:18955567 PMID:18955570 PMID:24033266 PMID:25425184 PMID:25741868 PMID:28492532 PMID:30124884 NCBI chr14:1,462,292...1,467,264
Ensembl chr14:1,462,358...1,467,264
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      respiratory system disease 2708
        lung disease 1602
          pulmonary alveolar proteinosis 14
            Surfactant Metabolism Dysfunction, Pulmonary, 4 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              Surfactant Metabolism Dysfunction, Pulmonary, 4 1
paths to the root