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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: 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by OMIM:607944
ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation
OMIM
ClinVar
PMID:2363422, PMID:12786759, PMID:13524805, PMID:16470600, PMID:18924170, PMID:21217752, PMID:21217755, PMID:25741868, PMID:26346816, PMID:26789720, PMID:26951490, PMID:27125509, PMID:27718324, PMID:28492532 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      primary immunodeficiency disease 2344
        combined immunodeficiency 148
          Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                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.