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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:capillary leak syndrome
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Accession:DOID:14400 term browser browse the term
Definition:A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
Synonyms:exact_synonym: Capillary Leak Syndromes;   Clarkson Disease;   Clinical Capillary Leak Syndrome;   Systemic Capillary Leak Syndrome
 primary_id: MESH:D019559;   RDO:0000774
 xref: NCI:C62578
For additional species annotation, visit the Alliance of Genome Resources.


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capillary leak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp:intron:c.75-1136G>A (rs3917490) (human) RGD PMID:24808988 RGD:11553829 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      capillary leak syndrome 1
        Capillary Leak Syndrome with Monoclonal Gammopathy 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          capillary disease 18
            capillary leak syndrome 1
              Capillary Leak Syndrome with Monoclonal Gammopathy 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.