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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:endometriosis of uterus
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Accession:DOID:288 term browser browse the term
Definition:The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma.
Synonyms:exact_synonym: Adenomyoses;   adenomyosis;   endometriosis interna;   endometriosis of myometrium;   myometrium endometriosis;   uterine adenomyosis
 primary_id: MESH:D062788
 alt_id: OMIM:600458;   RDO:0012109
 xref: ICD10CM:N80.0;   ICD9CM:617.0;   NCI:C6996
For additional species annotation, visit the Alliance of Genome Resources.


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endometriosis of uterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase disease_progression ISO RGD PMID:31247078 RGD:124715471 NCBI chr  X:97,722,796...97,762,315 JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 8:19,440,611...19,486,659 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 6:26,791,517...26,902,161 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO protein:increased expression:ectopic endometrium: RGD PMID:22572543 RGD:9588664 NCBI chr 3:142,130,592...142,169,124 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      reproductive system disease 2735
        female reproductive system disease 1734
          endometriosis 371
            endometriosis of uterus 4
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      Urogenital Diseases 4340
        Female Urogenital Diseases and Pregnancy Complications 2042
          Female Urogenital Diseases 1738
            female reproductive system disease 1734
              uterine disease 475
                endometrial disease 283
                  endometriosis of uterus 4
paths to the root