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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:Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
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Accession:DOID:9003917 term browser browse the term
Synonyms:exact_synonym: ROIFMAN IMMUNOSKELETAL SYNDROME;   SPENCD;   SPENCDI;   Spondyloenchondrodysplasia with Immune Dysregulation
 primary_id: MESH:C564307
 alt_id: MIM:607944


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Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation		 OMIM
CTD
ClinVar		 PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More... NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    syndrome 11181
      primary immunodeficiency disease 4307
        combined immunodeficiency 941
          Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      musculoskeletal system disease 8477
        connective tissue disease 5951
          bone disease 4402
            bone development disease 2370
              osteochondrodysplasia 867
                spondylometaphyseal dysplasia 15
                  Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
paths to the root