Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:0080344 term browser browse the term
Definition:A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. (DO)
Synonyms:exact_synonym: Blepharo-Cheilo-Dontic Syndrome;   Clefting, ectropion, and conical teeth;   ECTROPION INFERIOR CLEFT LIP AND OR PALATE;   Elschnig syndrome;   blepharo-cheilo-odontic syndrome;   lagophthalmia with bilateral cleft lip and palate
 primary_id: MESH:C536188
 alt_id: RDO:0001667
 xref: OMIM:PS119580
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      blepharocheilodontic syndrome 2
        blepharocheilodontic syndrome 1 1
        blepharocheilodontic syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft lip 57
                      BILATERAL CLEFT LIP 4
                        blepharocheilodontic syndrome 2
                          blepharocheilodontic syndrome 1 1
                          blepharocheilodontic syndrome 2 1
paths to the root