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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:9008188 term browser browse the term
Synonyms:exact_synonym: CCHIDG;   COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS
 primary_id: MESH:C567115
 alt_id: OMIM:233650;   RDO:0015278
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 cellular and humoral immune defects with granulomas ClinVar PMID:8810255, PMID:25739914, PMID:28492532 NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
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 OMIM:233650
OMIM
ClinVar
PMID:8810255, PMID:9630231, PMID:10701853, PMID:10891452, PMID:11133745, PMID:11313270, PMID:11520796, PMID:11908269, PMID:11971977, PMID:12200379, PMID:15908971, PMID:16276422, PMID:16960852, PMID:17075247, PMID:17572155, PMID:17890453, PMID:18056378, PMID:18442948, PMID:18463379, PMID:18592361, PMID:18701881, PMID:18822103, PMID:19064334, PMID:19246248, PMID:19458910, PMID:19830075, PMID:19912631, PMID:20109747, PMID:20489056, PMID:20956421, PMID:21131235, PMID:21184155, PMID:21502542, PMID:21624848, PMID:21664875, PMID:21771083, PMID:22424479, PMID:23085344, PMID:23122631, PMID:24122031, PMID:24144642, PMID:24290284, PMID:24331380, PMID:24406074, PMID:24418478, PMID:24472623, PMID:24817258, PMID:24985406, PMID:25516070, PMID:25739914, PMID:25741868, PMID:25976673, PMID:26186701, PMID:26457731, PMID:26476733, PMID:26596586, PMID:26829731, PMID:27301863, PMID:27609655, PMID:28216420, PMID:28492532, PMID:28747913, PMID:28769923, PMID:28864286, PMID:30290665, PMID:30307608, PMID:30858051 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rag2 recombination activating 2 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:8810255, PMID:10777560, PMID:10891502, PMID:11133745, PMID:11138625, PMID:11313270, PMID:15025726, PMID:16111638, PMID:16960852, PMID:17572155, PMID:18033247, PMID:18463379, PMID:19178939, PMID:19414857, PMID:20234091, PMID:20603253, PMID:21131235, PMID:21502542, PMID:21624848, PMID:21625022, PMID:22295088, PMID:23243423, PMID:23994475, PMID:24139496, PMID:24144642, PMID:24174341, PMID:24331380, PMID:24481607, PMID:25707801, PMID:25739914, PMID:25741868, PMID:25869295, PMID:26186701, PMID:26457731, PMID:26476733, PMID:26515615, PMID:26692406, PMID:26915675, PMID:28492532, PMID:28747913, PMID:28769923, PMID:29051008, PMID:29772310, PMID:30305145, PMID:30307608 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      respiratory system disease 2744
        lung disease 1638
          chronic granulomatous disease 20
            Combined Cellular and Humoral Immune Defects with Granulomas 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Infectious Skin Diseases 168
              cellulitis 33
                chronic granulomatous disease 20
                  Combined Cellular and Humoral Immune Defects with Granulomas 3
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.