Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


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:craniofrontonasal syndrome
go back to main search page
Accession:DOID:14737 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (DO)
Synonyms:exact_synonym: CFND;   CFNS;   craniofrontonasal dysostosis;   craniofrontonasal dysplasia
 primary_id: MESH:C536456
 alt_id: OMIM:304110
 xref: GARD:1578;   ORDO:1520
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
craniofrontonasal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Craniofrontonasal syndrome
CTD Direct Evidence: marker/mechanism
PMID:1468459 PMID:6627724 PMID:15124102 PMID:15166289 PMID:15959873 More... NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:64,580,938...64,585,864
Ensembl chr  X:64,580,849...64,585,833
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      craniofrontonasal syndrome 4
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            X-linked monogenic disease 1389
              X-linked dominant disease 244
                craniofrontonasal syndrome 4
paths to the root