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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,730,123...70,222,693
Ensembl chr  X:69,730,242...70,220,329
JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Craniofrontonasal syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:304110
ClinVar Annotator: match by term: Craniofrontonasal dysplasia
OMIM
ClinVar
CTD
PMID:1468459 PMID:6627724 PMID:15124102 PMID:15166289 PMID:16639408 PMID:16685650 PMID:17941886 PMID:18043713 PMID:23335590 PMID:25741868 PMID:28492532 PMID:31837199 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Ophn1 oligophrenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Pja1 praja ring finger ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17941886 NCBI chr  X:69,213,645...69,218,601
Ensembl chr  X:69,213,645...69,218,556
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      craniofrontonasal syndrome 4
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              X-linked dominant disease 118
                craniofrontonasal syndrome 4
paths to the root