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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

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Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      musculoskeletal system disease 4321
        Musculoskeletal Abnormalities 1340
          Craniofacial Abnormalities 1063
            craniofrontonasal syndrome 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            X-linked monogenic disease 855
              X-linked dominant disease 81
                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.