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ONTOLOGY REPORT - ANNOTATIONS


Term:Crouzon syndrome-acanthosis nigricans syndrome
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Accession:DOID:0111161 term browser browse the term
Definition:A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: CAN;   Crouzon syndrome with acanthosis nigricans;   Crouzon-dermoskeletal syndrome;   Crouzonodermoskeletal Syndrome
 primary_id: MESH:C567382
 alt_id: OMIM:612247
 xref: ORDO:93262
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Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:11554173
RGD:11568032
RGD:8554872

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Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Crouzon syndrome-acanthosis nigricans syndrome 1
Path 2
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  disease 16017
    disease of anatomical entity 15273
      Skin and Connective Tissue Diseases 5365
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              dysostosis 318
                synostosis 210
                  craniosynostosis 170
                    Crouzon syndrome 22
                      Crouzon syndrome-acanthosis nigricans syndrome 1
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