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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0013317
 alt_id: OMIM:607944
For additional species annotation, visit the Alliance of Genome Resources.


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Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp5 acid phosphatase 5, tartrate resistant JBrowse link 8 23,142,733 23,149,067 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      primary immunodeficiency disease 951
        Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              osteochondrodysplasia 406
                Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
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.