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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


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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 7:27,768,582...27,831,088
Ensembl chr 7:27,768,599...27,804,084 		JBrowse link
G Itga9 integrin subunit alpha 9 ISS OMIM:603523 MouseDO NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754 		JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Congenital chylothorax ClinVar PMID:25741868 PMID:28492532 PMID:38247840 NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital chylothorax 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        lower respiratory tract disease 2296
          pleural disease 113
            Chylothorax 5
              congenital chylothorax 3
paths to the root