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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
For additional species annotation, visit the Alliance of Genome Resources.

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:32307552 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 17289
    syndrome 8166
      Cardiofacioneurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Cardiofacioneurodevelopmental Syndrome 1
paths to the root