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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;   Facial paresis partial unilateral;   Partial unilateral facial paralysis
 primary_id: MESH:C535349;   RDO:0000419
 alt_id: OMIM:125520
For additional species annotation, visit the Alliance of Genome Resources.


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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 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Cayler Cardiofacial Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            cranial nerve disease 474
              facial nerve disease 50
                facial paralysis 7
                  Cayler Cardiofacial Syndrome 1
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.