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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:Sweeney-Cox syndrome
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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


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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:8988166 PMID:9259286 PMID:10649491 PMID:15923834 PMID:18391498 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 18969
    syndrome 10889
      Sweeney-Cox syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                Sweeney-Cox syndrome 1
paths to the root