Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 4
go back to main search page
Accession:DOID:9005853 term browser browse the term
Synonyms:exact_synonym: CSF2RA Deficiency;   PAP due to CSF2RA Deficiency;   SMDP4;   congenital pulmonary alveolar proteinosis 4
 xref: MESH:C567461;   MIM:300770;   MONDO:0010424



show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13541
        genetic disease 13203
          monogenic disease 10702
            X-linked monogenic disease 1448
              Pulmonary Surfactant Metabolism Dysfunction 4 1
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      respiratory system disease 5220
        lower respiratory tract disease 2353
          lung disease 2314
            pulmonary alveolar proteinosis 17
              Congenital Pulmonary Alveolar Proteinosis 8
                Pulmonary Surfactant Metabolism Dysfunction 4 1
paths to the root