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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 1
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Accession:DOID:9003489 term browser browse the term
Synonyms:exact_synonym: BPES with ovarian failure;   BPES, type I;   BPES, type I, autosomal recessive;   blepharophimosis, ptosis, and epicanthus inversus type I;   blepharophimosis, ptosis, and epicanthus inversus type I, autosomal recessive;   blepharophimosis, ptosis, epicanthus inversus type 1;   blepharophimosis, ptosis, epicanthus inversus with ovarian failure
 primary_id: MESH:C536233
For additional species annotation, visit the Alliance of Genome Resources.



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Blepharophimosis Syndrome Type 1 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 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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
JBrowse link

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 1 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            refractive error 173
              hyperopia 27
                strabismus 22
                  Duane retraction syndrome 6
                    blepharophimosis, ptosis, and epicanthus inversus syndrome 3
                      Blepharophimosis Syndrome Type 1 1
paths to the root