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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 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        combined immunodeficiency 148
          Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
paths to the root