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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 8 106,603,350 106,670,247 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 8 106,603,350 106,670,247 RGD:7240710
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin (cadherin associated protein), delta 1 JBrowse link 2 84,587,096 84,658,977 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12521
    syndrome 4802
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 12521
    Developmental Diseases 8507
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7274
        Congenital Abnormalities 3566
          Musculoskeletal Abnormalities 1305
            Craniofacial Abnormalities 1056
              Maxillofacial Abnormalities 205
                Jaw Abnormalities 203
                  orofacial cleft 114
                    cleft palate 92
                      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.