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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 38, with Basal Ganglia Calcification
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Accession:DOID:9006705 term browser browse the term
Synonyms:exact_synonym: IMD38;   IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;   ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE
 primary_id: OMIM:616126;   RDO:9000657
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Immunodeficiency 38, with Basal Ganglia Calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isg15 ISG15 ubiquitin-like modifier JBrowse link 5 173,624,862 173,629,124 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      primary immunodeficiency disease 1112
        Immunodeficiency 38, with Basal Ganglia Calcification 1
Path 2
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        acquired metabolic disease 2729
          mineral metabolism disease 420
            calcium metabolism disease 266
              calcinosis 238
                basal ganglia calcification 25
                  Immunodeficiency 38, with Basal Ganglia Calcification 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.