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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: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 11940
    Developmental Diseases 8507
      congenital heart disease 979
        jaw-winking syndrome 0
Path 2
Term Annotations click to browse term
  disease 11940
    Developmental Diseases 8507
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7484
        Congenital Abnormalities 4446
          Musculoskeletal Abnormalities 1676
            Craniofacial Abnormalities 1393
              Maxillofacial Abnormalities 221
                Jaw Abnormalities 211
                  jaw-winking syndrome 0
paths to the root

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