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ONTOLOGY REPORT - ANNOTATIONS


Term:blepharocheilodontic syndrome
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Accession:DOID:0080344 term browser browse the term
Definition:A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. (DO)
Synonyms:exact_synonym: Blepharo-Cheilo-Dontic Syndrome;   Clefting, ectropion, and conical teeth;   ECTROPION INFERIOR CLEFT LIP AND OR PALATE;   Elschnig syndrome;   Lagophthalmia with bilateral cleft lip and palate;   blepharo-cheilo-odontic syndrome
 primary_id: MESH:C536188
 alt_id: DOID:9005972;   RDO:0001667
 xref: OMIM:PS119580
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blepharocheilodontic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH1 cadherin 1 JBrowse link 16 68,737,292 68,835,537 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH1 cadherin 1 JBrowse link 16 68,737,292 68,835,537 RGD:7240710
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNND1 catenin delta 1 JBrowse link 11 57,761,802 57,819,540 RGD:8554872
RGD:7240710
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) JBrowse link 11 57,712,523 57,819,180 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16432
    syndrome 5499
      blepharocheilodontic syndrome 3
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 16432
    Developmental Diseases 10215
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8349
        Congenital Abnormalities 4057
          Musculoskeletal Abnormalities 1483
            Craniofacial Abnormalities 1204
              Maxillofacial Abnormalities 209
                Jaw Abnormalities 207
                  orofacial cleft 117
                    cleft palate 95
                      blepharocheilodontic syndrome 3
                        blepharocheilodontic syndrome 1 1
                        blepharocheilodontic syndrome 2 2
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.