FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 90 ID (Ontology) DOID:0061060 (Human Disease)
Definition A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13.
Also Known As "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction"
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 Genes
 immunodeficiency 90       1
 for disease ribbon | immunodeficiency 90       1
 model of | immunodeficiency 90       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 90  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT
Secondary IDs
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MIM:613759