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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;   blepharo-cheilo-odontic syndrome;   lagophthalmia with bilateral cleft lip and palate
 primary_id: MESH:C536188
 alt_id: RDO:0001667
 xref: OMIM:PS119580
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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:7240710
RGD:8554872
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:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        Congenital Abnormalities 4507
          Musculoskeletal Abnormalities 1504
            Craniofacial Abnormalities 1238
              Maxillofacial Abnormalities 220
                Jaw Abnormalities 209
                  orofacial cleft 118
                    cleft lip 54
                      BILATERAL CLEFT LIP 4
                        blepharocheilodontic syndrome 2
                          blepharocheilodontic syndrome 1 1
                          blepharocheilodontic syndrome 2 1
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.