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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:Estrogen Resistance
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Accession:DOID:9002239 term browser browse the term
Synonyms:exact_synonym: ESTROGEN INSENSITIVITY;   ESTRR;   Estrogen resistance syndrome
 primary_id: MIM:615363;   RDO:9000919
 xref: EFO:0009042


show annotations for term's descendants           Sort by:
Estrogen Resistance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC170 coiled-coil domain containing 170 ISO ClinVar Annotator: match by term: Estrogen resistance syndrome ClinVar PMID:33116287 NCBI chr 1:14,649,453...14,751,051
Ensembl chr 1:14,657,359...14,751,051 		JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: ESTROGEN INSENSITIVITY | ClinVar Annotator: match by term: Estrogen resistance syndrome ClinVar
OMIM		 PMID:8090165 PMID:8961262 PMID:15133719 PMID:23841731 PMID:25741868 More... NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G TMEM59 transmembrane protein 59 ISO ClinVar Annotator: match by term: Estrogen resistance syndrome ClinVar NCBI chr 6:158,261,936...158,290,465
Ensembl chr 6:158,261,993...158,290,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15439
    disease of anatomical entity 15108
      endocrine system disease 6229
        Estrogen Resistance 3
paths to the root