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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 6 18,075,487 18,155,986 RGD:9068941
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH1 cadherin 1 JBrowse link 6 18,075,487 18,155,986 RGD:7240710
RGD:9068941
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNND1 catenin delta 1 JBrowse link 2 13,143,604 13,209,251 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11965
    syndrome 4645
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 11965
    Developmental Diseases 8223
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7039
        Congenital Abnormalities 3469
          Musculoskeletal Abnormalities 1279
            Craniofacial Abnormalities 1033
              Maxillofacial Abnormalities 200
                Jaw Abnormalities 198
                  orofacial cleft 111
                    cleft palate 91
                      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.