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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: OMIM:619705
For additional species annotation, visit the Alliance of Genome Resources.



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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:32181500 PMID:32905580 NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        Immunodeficiency 93 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 0
      cardiovascular system disease 4834
        vascular disease 3611
          artery disease 2521
            aortic disease 648
              aortic valve disease 311
                aortic valve stenosis 286
                  subvalvular aortic stenosis 235
                    hypertrophic cardiomyopathy 234
                      Immunodeficiency 93 1
paths to the root