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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 cellular and humoral immune defects with granulomas
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Accession:DOID:0112253 term browser browse the term
Definition:A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)
Synonyms:exact_synonym: CCHIDG;   CID due to RAG 1/2 deficiency;   COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS;   combined immunodeficiency due to RAG 1/2 deficiency;   combined immunodeficiency with granulomatosis
 primary_id: MESH:C567115
 alt_id: DOID:9008188;   MIM:233650
 xref: GARD:13587;   ORDO:157949


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combined cellular and humoral immune defects with granulomas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas ClinVar PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532 NCBI chr 3:108,242,105...108,361,607
Ensembl chr 3:108,267,132...108,361,573 		JBrowse link
G Rag1 recombination activating 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas 		OMIM
CTD
ClinVar		 PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:108,371,978...108,383,261 		JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas 		OMIM
CTD
ClinVar		 PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 More... NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:108,357,399...108,365,253 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        combined immunodeficiency 950
          combined cellular and humoral immune defects with granulomas 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          primary immunodeficiency disease 4502
            phagocyte bactericidal dysfunction 180
              chronic granulomatous disease 94
                combined cellular and humoral immune defects with granulomas 3
paths to the root