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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:An autosomal dominant disease 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;   RDO:0015469
 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        dysostosis 303
          Crouzon syndrome 24
            Crouzon syndrome-acanthosis nigricans syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    Crouzon syndrome 24
                      Crouzon syndrome-acanthosis nigricans 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.