FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 93 ID (Ontology) DOID:0061063 (Human Disease)
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.
Also Known As "immunodeficiency-93 and hypertrophic cardiomyopathy"
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 Genes
 immunodeficiency 93       1
 for disease ribbon | immunodeficiency 93       1
 model of | immunodeficiency 93       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 93  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "immunodeficiency-93 and hypertrophic cardiomyopathy" EXACT
Secondary IDs
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MIM:619705