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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:congenital chylothorax
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Accession:DOID:0060646 term browser browse the term
Definition:A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO)
Synonyms:exact_synonym: congenital hydrothorax
 primary_id: MESH:C535461
 alt_id: OMIM:603523
 xref: ORDO:264688
For additional species annotation, visit the Alliance of Genome Resources.


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congenital chylothorax term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elk3 ETS transcription factor ELK3 ISS OMIM:603523 MouseDO NCBI chr 7:34,086,213...34,149,601
Ensembl chr 7:34,086,220...34,121,694
JBrowse link
G Itga9 integrin subunit alpha 9 ISS OMIM:603523 MouseDO NCBI chr 8:127,271,029...127,576,709
Ensembl chr 8:127,271,289...127,572,988
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital chylothorax 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      respiratory system disease 2770
        lower respiratory tract disease 1711
          pleural disease 70
            Chylothorax 4
              congenital chylothorax 2
paths to the root