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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 19 38,768,467 38,838,395 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:13592920
RGD:7240710
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link 3 72,001,904 72,053,047 RGD:8554872
RGD:13592920
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Craniofacial Abnormalities 945
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft palate 90
                      blepharocheilodontic syndrome 2
                        blepharocheilodontic syndrome 1 1
                        blepharocheilodontic syndrome 2 1
paths to the root