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
Accession: DOID:13677
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Definition: A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. (DO)
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
xref: EFO:1001164 ; GARD:7606 ; NCI:C119049 ; NCI:C84530
For additional species annotation, visit the
Alliance of Genome Resources .
G
Cdkal1
CDK5 regulatory subunit associated protein 1-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27936930
NCBI chr17:34,927,221...35,479,827
Ensembl chr17:34,718,687...35,407,524
G
Mdm2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19779722
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
G
Pstpip2
proline-serine-threonine phosphatase-interacting protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr18:73,585,729...73,671,868
Ensembl chr18:71,311,020...71,395,709
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27108452
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19779722
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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