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
 alt_id: DOID:9000897;   RDO:9000252
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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

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Path 1
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  disease 14926
    syndrome 4715
      Cornelia de Lange syndrome 15
        Cornelia de Lange syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    Cornelia de Lange syndrome 15
                      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.