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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 2
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Accession:DOID:0080346 term browser browse the term
Definition:A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: BCDS2
 primary_id: OMIM:617681
 alt_id: RDO:9005144
For additional species annotation, visit the Alliance of Genome Resources.



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blepharocheilodontic syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        Congenital Abnormalities 5596
          Musculoskeletal Abnormalities 2242
            Craniofacial Abnormalities 1963
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft lip 57
                      BILATERAL CLEFT LIP 4
                        blepharocheilodontic syndrome 2
                          blepharocheilodontic syndrome 2 1
paths to the root