ONTOLOGY REPORT - ANNOTATIONS


Term:blepharophimosis, ptosis, and epicanthus inversus syndrome
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Accession:DOID:14778 term browser browse the term
Synonyms:exact_synonym: BPES;   Blepharophimosis Syndrome;   Blepharophimosis, Ptosis, and Epicanthus Inversus Type I;   Blepharophimosis, Ptosis, and Epicanthus Inversus Type II;   blepharophimosis, ptosis, and epicanthus inversus;   blepharophimosis, ptosis, epicanthus inversus syndrome
 narrow_synonym: BPES WITH DUANE RETRACTION SYNDROME;   BPES with ovarian failure;   BPES without ovarian failure;   BPES, TYPE I;   BPES, TYPE I, AUTOSOMAL RECESSIVE;   BPES, type II;   blepharophimosis, ptosis, and epicanthus inversus, type I, autosomal recessive
 primary_id: MESH:C562419
 alt_id: DOID:9003196;   MESH:C566222;   OMIM:110100;   RDO:0012154;   RDO:0014636
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blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:11554173
RGD:7240710
RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Duane retraction syndrome 6
        blepharophimosis, ptosis, and epicanthus inversus syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              refractive error 96
                hyperopia 29
                  strabismus 23
                    Duane retraction syndrome 6
                      blepharophimosis, ptosis, and epicanthus inversus syndrome 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.