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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 80
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Accession:DOID:9004909 term browser browse the term
Synonyms:exact_synonym: IMD80;   MCM10 deficiency;   immunodeficiency-80 with or without congenital cardiomyopathy
 primary_id: OMIM:619313

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Immunodeficiency 80 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy OMIM
ClinVar		 PMID:25741868 PMID:32865517 PMID:33712616 NCBI chrNW_004955462:1,151,163...1,186,601
Ensembl chrNW_004955462:1,153,058...1,188,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      primary immunodeficiency disease 3472
        Immunodeficiency 80 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Immune & Inflammatory Diseases 4634
        immune system disease 4032
          primary immunodeficiency disease 3472
            Immunodeficiency 80 1
paths to the root