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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:jaw-winking syndrome
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Accession:DOID:560 term browser browse the term
Synonyms:exact_synonym: Familial Marcus Gunn phenomenon;   Jaw-winking;   Marcus Gunn Phenomenon;   Marcus-Gunn syndrome;   Maxillopalpebral synkinesis;   abnormal innervation syndrome of eyelid;   jaw-blinking;   pterygoid-levator synkinesis
 primary_id: MESH:C535908
 alt_id: OMIM:154600;   RDO:0001274
 xref: ICD10CM:Q07.8;   ICD9CM:374.43
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 16108
    Developmental Diseases 9509
      congenital heart disease 1074
        jaw-winking syndrome 0
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Craniofacial Abnormalities 1455
              Maxillofacial Abnormalities 238
                Jaw Abnormalities 227
                  jaw-winking syndrome 0
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.