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ONTOLOGY REPORT - ANNOTATIONS


Term:blepharocheilodontic syndrome 1
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Accession:DOID:0080345 term browser browse the term
Definition:A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: BCDS1
 primary_id: OMIM:119580
 alt_id: DOID:9006710;   RDO:9005143
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Musculoskeletal Abnormalities 1178
            Craniofacial Abnormalities 938
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  orofacial cleft 110
                    cleft palate 90
                      blepharocheilodontic syndrome 2
                        blepharocheilodontic syndrome 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.