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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 RAG1 or RAG2 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;   OMIM:233650
 xref: GARD:13587;   ORDO:157949
For additional species annotation, visit the Alliance of Genome Resources.


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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:28492532 NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas OMIM
ClinVar		 PMID:290284 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas OMIM
ClinVar		 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        combined immunodeficiency 767
          combined cellular and humoral immune defects with granulomas 3
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            Infectious Skin Diseases 362
              cellulitis 78
                chronic granulomatous disease 64
                  combined cellular and humoral immune defects with granulomas 3
paths to the root