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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

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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, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4666
      blepharophimosis 17
        blepharophimosis, ptosis, and epicanthus inversus syndrome 3
          Blepharophimosis Syndrome Type 1 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      nervous system disease 12346
        Neurologic Manifestations 9048
          sensory system disease 6287
            eye disease 3217
              refractive error 224
                hyperopia 42
                  strabismus 35
                    Duane retraction syndrome 14
                      blepharophimosis, ptosis, and epicanthus inversus syndrome 3
                        Blepharophimosis Syndrome Type 1 1
paths to the root