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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:eosinophilic esophagitis
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Accession:DOID:13922 term browser browse the term
Definition:An esophagitis characterized by inflammation involving eosinophils located_in esophagus. (DO)
Synonyms:exact_synonym: EE;   EOE1;   EOE2;   Eosinophilic Chronic Esophagitides;   Eosinophilic Chronic Esophagitis;   Eosinophilic Esophagitides;   eosinophilic esophagitis 1;   eosinophilic esophagitis 2;   esophageal eosinophilia
 narrow_synonym: childhood eosinophilic esophagitis;   pediatric eosinophilic esophagitis
 primary_id: MESH:D057765
 alt_id: OMIM:610247;   OMIM:613412
 xref: EFO:0004232;   EFO:0004594;   ICD10CM:K20.0;   ICD9CM:530.13;   NCI:C27105;   ORDO:73247
For additional species annotation, visit the Alliance of Genome Resources.

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eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chrNW_004955468:5,314,779...5,364,925
Ensembl chrNW_004955468:5,324,858...5,363,778 		JBrowse link
G Capn14 calpain 14 ISO mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism
DNA:snps:multiple (human)		 RGD
CTD		 PMID:25017104 PMID:25407941 RGD:11100048 RGD:11100049 NCBI chrNW_004955469:12,899,174...12,929,408 JBrowse link
G Ccl26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613 PMID:24704289 RGD:11081156 RGD:11081157 NCBI chrNW_004955456:14,554,583...14,558,967 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353 		JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:24486052 RGD:11073602 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chrNW_004955418:4,041,529...4,045,534 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      gastrointestinal system disease 5961
        gastroenteritis 486
          esophagitis 26
            eosinophilic esophagitis 9
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Pathologic Processes 6870
        Inflammation 2225
          gastroenteritis 486
            esophagitis 26
              eosinophilic esophagitis 9
paths to the root