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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:echinococcosis
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Accession:DOID:1496 term browser browse the term
Definition:A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. (DO)
Synonyms:exact_synonym: Hydatid Cyst;   Hydatid Cysts;   Hydatidoses;   echinococcal disease;   echinococcoses;   echinococcosis of liver;   hepatic echinococcosis;   hydatid disease;   hydatidosis;   liver echinococcus
 primary_id: MESH:D004443
 xref: EFO:0007245;   ICD10CM:B67;   ICD9CM:122;   NCI:C84682
For additional species annotation, visit the Alliance of Genome Resources.


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echinococcosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:2142987 RGD:5128834 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24270252 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24270252 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Il5 interleukin 5 ISO mRNA: increased expression: : peritoneal lavage cells RGD PMID:21912714 RGD:5687176 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24270252 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
alveolar echinococcosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule treatment ISO RGD PMID:30315719 RGD:41410787 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G RT1-Bb RT1 class II, locus Bb disease_progression ISO DNA:polymorphism: :HLA-DQB1*02(human) RGD PMID:9756400 RGD:36174003 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms: :HLA-DRB1*03, DRB1*11(human) RGD PMID:9756400 RGD:36174003 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:PBMC RGD PMID:30141853 RGD:15090814 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:peripheral blood monocyte: RGD PMID:21923667 RGD:18182935 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Hepatic Echinococcosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO mRNA, protein:increased expression:liver RGD PMID:25907244 RGD:41412175 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:serum RGD PMID:12927688 RGD:5509967 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA, protein:increased expression:liver RGD PMID:25907244 RGD:41412175 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease by infectious agent 2253
      parasitic infectious disease 328
        parasitic helminthiasis infectious disease 83
          echinococcosis 13
            Hepatic Echinococcosis + 6
            Pulmonary Echinococcosis 0
            alveolar echinococcosis 4
            cystic echinococcosis 5
            polycystic echinococcosis 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease by infectious agent 2253
      parasitic infectious disease 328
        parasitic helminthiasis infectious disease 83
          Cestode Infections 14
            echinococcosis 13
              Hepatic Echinococcosis + 6
              Pulmonary Echinococcosis 0
              alveolar echinococcosis 4
              cystic echinococcosis 5
              polycystic echinococcosis 0
paths to the root