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immunodeficiency 91 - Ontology Report - Rat Genome Database

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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 91
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Accession:DOID:0061061 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: IMD91;   immunodeficiency 91 and hyperinflammation
 broad_synonym: ZNFX1-related condition
 alt_id: DOID:9003310
 xref: MIM:619644;   MONDO:0030491

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immunodeficiency 91 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znfx1 zinc finger, NFX1-type containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation | ClinVar Annotator: match by term: ZNFX1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33872655 PMID:33876776 NCBI chr 3:176,183,111...176,210,812
Ensembl chr 3:155,764,980...155,821,242 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11397
      primary immunodeficiency disease 4476
        immunodeficiency 91 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10946
            autosomal genetic disease 10433
              autosomal recessive disease 7126
                immunodeficiency 91 1
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