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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



show annotations for term's descendants           Sort by:
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 chr10:13,165,811...13,215,024
Ensembl chr10:13,138,824...13,187,991
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    syndrome 10118
      primary immunodeficiency disease 3792
        Immunodeficiency 80 1
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      Immune & Inflammatory Diseases 5045
        immune system disease 4389
          primary immunodeficiency disease 3792
            Immunodeficiency 80 1
paths to the root