Send us a Message

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


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Dubowitz syndrome 0
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      Dubowitz syndrome 0
paths to the root