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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 ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105 PMID:24033266 PMID:25741868 PMID:25980754 PMID:26123647 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        Congenital Abnormalities 5594
          Musculoskeletal Abnormalities 2240
            Craniofacial Abnormalities 1961
              Maxillofacial Abnormalities 243
                Jaw Abnormalities 231
                  orofacial cleft 129
                    cleft lip 57
                      BILATERAL CLEFT LIP 4
                        blepharocheilodontic syndrome 2
                          blepharocheilodontic syndrome 1 1
paths to the root