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Term:SAPHO syndrome
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Accession:DOID:13677 term browser browse the term
Definition:Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
Synonyms:exact_synonym: Acquired Hyperostosis Syndromes;   SAPHO syndromes;   acquired hyperostosis syndrome;   synovitis, acne, pustlosis, hyperostosis, and osteomyelitis;   synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
 primary_id: MESH:D020083
 alt_id: RDO:0007313
 xref: GARD:7606;   NCI:C119049;   NCI:C84530
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SAPHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 JBrowse link 17 36,451,031 37,157,882 RGD:11554173
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:11554173
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 JBrowse link 18 74,173,809 74,291,188 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173

Term paths to the root
Path 1
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  disease 15639
    syndrome 5218
      SAPHO syndrome 5
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              osteochondrodysplasia 410
                SAPHO syndrome 5
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.