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ONTOLOGY REPORT - ANNOTATIONS


Term:Dubowitz syndrome
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Accession:DOID:14796 term browser browse the term
Definition:A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. (DO)
Synonyms:exact_synonym: Dubowitz's syndrome;   Dwarfism-eczema-peculiar facies syndrome
 primary_id: MESH:C535718
 alt_id: OMIM:223370;   RDO:0000989
 xref: GARD:6290
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  disease 14926
    syndrome 4730
      Dubowitz syndrome 0
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  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              developmental disorder of mental health 2608
                specific developmental disorder 1771
                  intellectual disability 1599
                    Dubowitz syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.