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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:immunodeficiency 34
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Accession:DOID:0112000 term browser browse the term
Definition:A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in CYBB on chromosome Xp21.1-p11.4. (DO)
Synonyms:exact_synonym: AMCBX2;   Atypical Mycobacterial Infection, Disseminated, X-Linked 2;   Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2;   IMD34;   X-linked MSMD due to CYBB deficiency;   X-linked familial atypical mycobacteriosis 2;   X-linked immunodeficiency 34, mycobacteriosis;   X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
 primary_id: MESH:C567068
 alt_id: OMIM:300645
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by OMIM:300645
ClinVar Annotator: match by term: Atypical mycobacteriosis, familial, X-linked 2
OMIM
ClinVar
PMID:17293536 PMID:21278736 PMID:25741868 PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        phagocyte bactericidal dysfunction 44
          immunodeficiency 34 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease by infectious agent 1898
      Bacterial Infections and Mycoses 782
        bacterial infectious disease 617
          Gram-Positive Bacterial Infections 225
            Actinomycetales Infections 163
              Mycobacterium Infections 162
                Nontuberculous Mycobacterium Infections 26
                  immunodeficiency 34 1
paths to the root