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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 NW_004955484 7,782,409 7,861,082 RGD:9068941
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link NW_004955484 7,782,409 7,861,082 RGD:7240710
RGD:9068941
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link NW_004955511 2,658,879 2,705,992 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11239
    syndrome 4441
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 11239
    Developmental Diseases 7795
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6708
        Congenital Abnormalities 3352
          Musculoskeletal Abnormalities 1248
            Craniofacial Abnormalities 1008
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 197
                  orofacial cleft 108
                    cleft palate 89
                      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.