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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 38
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Accession:DOID:0111934 term browser browse the term
Definition:A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33. (DO)
Synonyms:exact_synonym: IMD38;   Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency;   autosomal recessive ISG15 deficiency;   immunodeficiency 38 with basal ganglia calcification;   immunodeficiency 38, mycobacteriosis, autosomal recessive
 primary_id: OMIM:616126
 xref: ORDO:319563
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by OMIM:616126
ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification
ClinVar
OMIM
PMID:22859821, PMID:25307056, PMID:25741868, PMID:28492532 NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        immunodeficiency 38 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease by infectious agent 1774
      Bacterial Infections and Mycoses 673
        bacterial infectious disease 574
          Gram-Positive Bacterial Infections 197
            Actinomycetales Infections 147
              Mycobacterium Infections 146
                Nontuberculous Mycobacterium Infections 26
                  immunodeficiency 38 1
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.