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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


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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 OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7500
          Musculoskeletal Abnormalities 3271
            Craniofacial Abnormalities 2638
              Maxillofacial Abnormalities 310
                Jaw Abnormalities 262
                  orofacial cleft 153
                    cleft lip 59
                      BILATERAL CLEFT LIP 7
                        blepharocheilodontic syndrome 2
                          blepharocheilodontic syndrome 2 1
paths to the root