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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:craniofrontonasal syndrome
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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.


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craniofrontonasal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EFNB1 ephrin B1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Craniofrontonasal syndrome
OMIM:304110
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1468459 PMID:6627724 PMID:9536098 PMID:15124102 PMID:15166289 More... NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G OPHN1 oligophrenin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913 		JBrowse link
G PJA1 praja ring finger ubiquitin ligase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,160,746...69,165,453
Ensembl chr  X:69,160,851...69,165,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      craniofrontonasal syndrome 4
Path 2
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        genetic disease 23840
          monogenic disease 18586
            X-linked monogenic disease 2094
              X-linked dominant disease 323
                craniofrontonasal syndrome 4
paths to the root