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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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SAPHO syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27936930 NCBI chr17:36,451,031...37,157,882
Ensembl chr17:36,451,058...37,295,069
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19779722 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr18:74,173,809...74,291,188
Ensembl chr18:74,174,936...74,292,921
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:27108452 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19779722 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      SAPHO syndrome 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                SAPHO syndrome 5
paths to the root

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