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:Sweeney-Cox syndrome
go back to main search page
Accession:DOID:0080538 term browser browse the term
Definition:A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)
Synonyms:exact_synonym: SWCOS
 primary_id: OMIM:617746
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Sweeney-Cox syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: SWEENEY-COX SYNDROME | ClinVar Annotator: match by term: Sweeney-Cox syndrome OMIM
ClinVar
PMID:15923834 PMID:18391498 PMID:21876555 PMID:25741868 PMID:27884935 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      Sweeney-Cox syndrome 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal dominant disease 5473
                Sweeney-Cox syndrome 1
paths to the root