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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:Cardiofacioneurodevelopmental Syndrome
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Accession:DOID:9007327 term browser browse the term
Synonyms:exact_synonym: CFNDS
 primary_id: OMIM:619123
For additional species annotation, visit the Alliance of Genome Resources.



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Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar
PMID:32307552 PMID:35451546 NCBI chr 3:105,998,429...106,010,930
Ensembl chr 3:105,998,430...106,010,975
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9746
      Cardiofacioneurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11805
        genetic disease 11316
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal dominant disease 5419
                complex cortical dysplasia with other brain malformations 1488
                  Malformations of Cortical Development, Group I 1339
                    microcephaly 1164
                      Cardiofacioneurodevelopmental Syndrome 1
paths to the root