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ONTOLOGY REPORT - ANNOTATIONS


Term:Cornelia de Lange syndrome 4
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Accession:DOID:0080508 term browser browse the term
Definition:A syndrome characterized by microcephaly and a characteristic facial appearance, with thick, bushy, arched eyebrows, synophrys, long or prominent eyelashes, broad nasal bridge, smooth philtrum, and thin upper lip.
Synonyms:exact_synonym: CDLS4
 primary_id: OMIM:614701
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Cornelia de Lange syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Cornelia de Lange syndrome 16
        Cornelia de Lange syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Cornelia de Lange syndrome 16
                      Cornelia de Lange syndrome 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.