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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:Endometrial Intraepithelial Neoplasia
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Accession:DOID:9005612 term browser browse the term
Definition:This is a premalignant neoplastic process that affects the endometrial epithelium and glands. It is a neoplastic clonal expansion of endometrial glands characterized by cytologic changes of the epithelium and the presence of an increased number of endometrial glands. The glands form crowded aggregates with tubular or branching patterns which are cytologically distinct from the background architectural and cytological pattern. It is associated with molecular changes seen in endometrioid endometrial carcinoma, including microsatellite instability, PAX2 inactivation, and PTEN, KRAS, and CTNNB1 gene mutation
Synonyms:exact_synonym: Atypical Endometrial Hyperplasia;   Atypical Hyperplasia of Endometrium;   Atypical hyperplasia/Endometrial intraepithelial neoplasia;   EAH/EIN;   EIN;   EmGD;   Endometrial Atypical Hyperplasia;   Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia;   Endometrial Glandular Dysplasia;   Endometrial Hyperplasia with Atypia
 narrow_synonym: Cervical Glandular Intraepithelial Neoplasia
 xref: EFO:1000165;   EFO:1000235


show annotations for term's descendants           Sort by:
Endometrial Intraepithelial Neoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical endometrial hyperplasia ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      pre-malignant neoplasm 309
        Endometrial Intraepithelial Neoplasia 6
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              Female Genital Neoplasms 845
                Uterine Neoplasms 472
                  uterine benign neoplasm 38
                    endometrial hyperplasia 20
                      Endometrial Intraepithelial Neoplasia 6
paths to the root