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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:0061063 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: IMD93;   immunodeficiency 93 and hypertrophic cardiomyopathy
 broad_synonym: FNIP1-related condition
 alt_id: DOID:9001635
 xref: MIM:619705;   MONDO:0030528


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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: FNIP1-related condition | ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32181500 PMID:32905580 NCBI chr10:39,068,432...39,151,552
Ensembl chr10:39,068,445...39,151,552 		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 chr10:39,156,573...39,324,947
Ensembl chr10:39,156,620...39,324,946 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        immunodeficiency 93 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 0
      cardiovascular system disease 5558
        vascular disease 4039
          artery disease 2864
            aortic disease 822
              aortic valve disease 393
                aortic valve stenosis 371
                  subvalvular aortic stenosis 306
                    hypertrophic cardiomyopathy 304
                      immunodeficiency 93 2
paths to the root