ONTOLOGY REPORT - ANNOTATIONS


Term:Blepharophimosis Syndrome Type 1
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Accession:DOID:9003489 term browser browse the term
Synonyms:exact_synonym: Blepharophimosis, ptosis, epicanthus inversus type 1;   Blepharophimosis, ptosis, epicanthus inversus with ovarian failure
 primary_id: MESH:C536233;   RDO:0001725
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Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          Blepharophimosis Syndrome Type 1 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Female Urogenital Diseases and Pregnancy Complications 1644
          Female Urogenital Diseases 1396
            female reproductive system disease 1392
              Adnexal Diseases 599
                ovarian disease 593
                  ovarian dysfunction 3
                    premature menopause 3
                      Blepharophimosis Syndrome Type 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.