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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:Dubowitz syndrome
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Accession:DOID:14796 term browser browse the term
Definition:A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, 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
 xref: GARD:6290;   NCI:C125591;   ORDO:235
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Dubowitz syndrome 0
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal dominant disease 4485
                complex cortical dysplasia with other brain malformations 1155
                  Malformations of Cortical Development, Group I 1064
                    microcephaly 905
                      Dubowitz syndrome 0
paths to the root