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ONTOLOGY REPORT - ANNOTATIONS


Term:Jackson-Weiss syndrome
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Accession:DOID:0111337 term browser browse the term
Definition:An autosomal dominant disease characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13. (DO)
Synonyms:exact_synonym: Acrocephalosyndactyly Jackson Weiss type;   Craniosynostosis, midfacial hypoplasia, and foot abnormalities;   Enlarged great toes and craniofacial abnormalities;   JWS;   craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
 primary_id: MESH:C537559
 alt_id: DOID:9002940;   OMIM:123150;   RDO:0003421
 xref: GARD:6796;   ORDO:1540
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Jackson-Weiss syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
RGD:12801470

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Path 1
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  disease 15626
    syndrome 5163
      Jackson-Weiss syndrome 2
Path 2
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  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        connective tissue disease 2779
          bone disease 2232
            bone development disease 996
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    Jackson-Weiss syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.