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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:orofaciodigital syndrome XI
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Accession:DOID:0060381 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO)
Synonyms:exact_synonym: Gabrielli syndrome;   OFD11;   OFDS XI;   Oral-Facial-Digital Syndrome with Skeletal Anomalies;   Oral-Facial-Digital Syndrome, Type XI;   oral-facial-digital syndrome 11;   orofaciodigital syndrome 11
 primary_id: MESH:C557821
 alt_id: OMIM:612913
 xref: ORDO:141000


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      orofaciodigital syndrome 31
        orofaciodigital syndrome XI 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                orofaciodigital syndrome 31
                  orofaciodigital syndrome XI 0
paths to the root