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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: RDO:9005143
For additional species annotation, visit the Alliance of Genome Resources.


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blepharocheilodontic syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO OMIM NCBI chrNW_004936475:18,990,529...19,065,954 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13024
    syndrome 6963
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 13024
    Developmental Disease 9866
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8592
        Congenital Abnormalities 5228
          Musculoskeletal Abnormalities 2154
            Craniofacial Abnormalities 1895
              Maxillofacial Abnormalities 230
                Jaw Abnormalities 219
                  orofacial cleft 122
                    cleft lip 56
                      BILATERAL CLEFT LIP 4
                        blepharocheilodontic syndrome 2
                          blepharocheilodontic syndrome 1 1
paths to the root