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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:Cayler Cardiofacial Syndrome
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Accession:DOID:9006596 term browser browse the term
Synonyms:exact_synonym: ACF;   Asymmetric crying facies;   Cayler syndrome;   Cayler's syndrome;   Depressor Anguli Oris Muscle, Hypoplasia Of;   Partial unilateral facial paralysis;   Partial unilateral facial paresis
 primary_id: MESH:C535349
 alt_id: OMIM:125520

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Cayler Cardiofacial Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Cayler Cardiofacial Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        peripheral nervous system disease 4076
          neuropathy 3863
            cranial nerve disease 665
              facial nerve disease 55
                facial paralysis 6
                  Cayler Cardiofacial Syndrome 1
paths to the root