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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 93
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Accession:DOID:9001635 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31.
Synonyms:exact_synonym: IMD93;   immunodeficiency 93 and hypertrophic cardiomyopathy
 primary_id: MIM:619705


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Immunodeficiency 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy OMIM
ClinVar		 PMID:25741868 PMID:32181500 PMID:32905580 NCBI chr11:19,979,294...20,134,341
Ensembl chr11:19,979,163...20,134,229 		JBrowse link
G RAPGEF6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy ClinVar PMID:32905580 NCBI chr11:19,775,874...19,973,784 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15606
    syndrome 10129
      primary immunodeficiency disease 3748
        Immunodeficiency 93 2
Path 2
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      cardiovascular system disease 4426
        vascular disease 3122
          artery disease 2052
            aortic disease 777
              aortic valve disease 371
                aortic valve stenosis 349
                  subvalvular aortic stenosis 287
                    hypertrophic cardiomyopathy 285
                      Immunodeficiency 93 2
paths to the root