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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:Cardiofacioneurodevelopmental Syndrome
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Accession:DOID:9007327 term browser browse the term
Synonyms:exact_synonym: CFNDS
 primary_id: OMIM:619123

show annotations for term's descendants           Sort by:
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
PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 3:105,998,429...106,010,985
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 21118
    syndrome 10725
      Cardiofacioneurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          monogenic disease 10256
            autosomal genetic disease 9403
              autosomal dominant disease 6168
                complex cortical dysplasia with other brain malformations 1575
                  Malformations of Cortical Development, Group I 1364
                    microcephaly 1120
                      Cardiofacioneurodevelopmental Syndrome 1
paths to the root