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

ONTOLOGY REPORT - ANNOTATIONS


Term:Sweeney-Cox syndrome
go back to main search page
Accession:DOID:0080538 term browser browse the term
Definition:A disease characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears. (OMIM)
Synonyms:exact_synonym: SWCOS
 primary_id: OMIM:617746
 alt_id: DOID:9004224;   RDO:9005206
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Sweeney-Cox syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      Sweeney-Cox syndrome 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                Sweeney-Cox syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.