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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: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: MIM: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 5:9,646,599...9,884,609
Ensembl chr 5:9,646,591...9,884,614 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Cayler Cardiofacial Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        peripheral nervous system disease 4419
          neuropathy 4203
            cranial nerve disease 828
              facial nerve disease 57
                facial paralysis 6
                  Cayler Cardiofacial Syndrome 1
paths to the root