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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:Chronic recurrent multifocal osteomyelitis 3
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Accession:DOID:9007679 term browser browse the term
Definition:An autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. Caused by heterozygous mutation in the IL1R1 gene on chromosome 2q12.
Synonyms:exact_synonym: CRMO3
 xref: MIM:259680


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Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 OMIM
ClinVar		 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease by infectious agent 2253
      Bacterial Infections and Mycoses 1119
        fungal infectious disease 163
          osteomyelitis 23
            chronic recurrent multifocal osteomyelitis 18
              Chronic recurrent multifocal osteomyelitis 3 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone inflammation disease 1558
              osteomyelitis 23
                chronic recurrent multifocal osteomyelitis 18
                  Chronic recurrent multifocal osteomyelitis 3 1
paths to the root