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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
 primary_id: OMIM:615363;   RDO:9000919
For additional species annotation, visit the Alliance of Genome Resources.


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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 This custom term has been created by RGD curators. ClinVar NCBI chr 1:42,216,594...42,256,837
NCBI chr 1:41,033,284...41,133,299
Ensembl chr 1:41,034,308...41,126,043
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Estrogen resistance
ClinVar Annotator: match by OMIM:615363
OMIM
ClinVar
PMID:8090165, PMID:8961262, PMID:23841731, PMID:27754803 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Tmem59 transmembrane protein 59 ISO ClinVar Annotator: match by term: Estrogen resistance ClinVar NCBI chr 5:126,783,061...126,804,177
Ensembl chr 5:126,783,061...126,804,175
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        Estrogen Resistance 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.