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ONTOLOGY REPORT - ANNOTATIONS


Term:craniofrontonasal syndrome
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Accession:DOID:14737 term browser browse the term
Definition:A X-linked dominant disease 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;   RDO:0002050
 xref: GARD:1578
For additional species annotation, visit the Alliance of Genome Resources.


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craniofrontonasal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efnb1 ephrin B1 JBrowse link X 68,891,227 68,904,034 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        Musculoskeletal Abnormalities 1198
          Craniofacial Abnormalities 953
            craniofrontonasal syndrome 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          monogenic disease 3227
            X-linked monogenic disease 839
              X-linked dominant disease 61
                craniofrontonasal syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.