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ONTOLOGY REPORT - ANNOTATIONS


Term:blepharophimosis, ptosis, and epicanthus inversus syndrome
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Accession:DOID:14778 term browser browse the term
Definition:A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3. (DO)
Synonyms:exact_synonym: BPES;   blepharophimosis syndrome;   blepharophimosis, ptosis, and epicanthus inversus;   blepharophimosis, ptosis, and epicanthus inversus type I;   blepharophimosis, ptosis, and epicanthus inversus type II;   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: MESH:C566222;   OMIM:110100
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blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat 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:8554872
RGD:11554173
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872

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  disease 16021
    syndrome 6144
      blepharophimosis, ptosis, and epicanthus inversus syndrome 3
Path 2
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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            cranial nerve disease 393
              ocular motility disease 116
                strabismus 20
                  Duane retraction syndrome 6
                    blepharophimosis, ptosis, and epicanthus inversus syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.