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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:cystic echinococcosis
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Accession:DOID:1495 term browser browse the term
Definition:An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produces fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
Synonyms:exact_synonym: Echinococcus granulosus infection;   Echinococcus granulosus infection of lung;   Echinococcus granulosus infection of thyroid;   Liver echinococcus granulosus;   Thyroid echinococcus granulosus;   echinococcus granulosus;   echinococcus granulosus infectious disease;   echinococcus granulosus infectious disease of liver;   echinococcus granulosus infectious disease of thyroid;   lung echinococcus granulosus;   unilocular echinococcosis;   unilocular hydatid disease
 primary_id: RDO:9002370
 xref: ICD10CM:B67.4;   ICD9CM:122.4
For additional species annotation, visit the Alliance of Genome Resources.


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cystic echinococcosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4 interleukin 4 treatment ISO RGD PMID:25726962 RGD:14696685 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms: :HLA- DQB1*0.9, DQB1*02(human) RGD PMID:22308705 RGD:36174019 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism: :HLA-DRB1*03, DRB1*07(human) RGD PMID:22308705 RGD:36174019 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO DNA:mutation:cds:Arg753Gln(human)
mRNA:increased expression:peripheral blood monocyte:
RGD PMID:31437685, PMID:21923667 RGD:15090825, RGD:18182935 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:peripheral blood monocyte: RGD PMID:21923667 RGD:18182935 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      respiratory system disease 2733
        lung disease 1626
          cystic echinococcosis 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease by infectious agent 1748
      parasitic infectious disease 221
        parasitic helminthiasis infectious disease 62
          Cestode Infections 12
            echinococcosis 11
              cystic echinococcosis 5
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.