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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 76
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Accession:DOID:9003039 term browser browse the term
Synonyms:exact_synonym: IMD76
 primary_id: OMIM:619164


show annotations for term's descendants           Sort by:
Immunodeficiency 76 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 76 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30822429 PMID:32098969 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      primary immunodeficiency disease 5017
        Immunodeficiency 76 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Immune & Inflammatory Diseases 6727
        immune system disease 5890
          primary immunodeficiency disease 5017
            Immunodeficiency 76 1
paths to the root