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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:Blepharophimosis Syndrome Type 2
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Accession:DOID:9007148 term browser browse the term
Synonyms:exact_synonym: BPES without ovarian failure;   BPES, type II;   blepharophimosis, ptosis, and epicanthus inversus type 2;   blepharophimosis, ptosis, and epicanthus inversus type II;   blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
 primary_id: MESH:C536234
For additional species annotation, visit the Alliance of Genome Resources.



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Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Duane retraction syndrome 6
        blepharophimosis, ptosis, and epicanthus inversus syndrome 3
          Blepharophimosis Syndrome Type 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            cranial nerve disease 484
              ocular motility disease 132
                strabismus 22
                  Duane retraction syndrome 6
                    blepharophimosis, ptosis, and epicanthus inversus syndrome 3
                      Blepharophimosis Syndrome Type 2 1
paths to the root