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Metadata
ID DOID:0061060
Name immunodeficiency 90
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.
https://pubmed.ncbi.nlm.nih.gov/32350755/
Xrefs

MIM:613759
Synonyms

immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction [EXACT]
Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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