FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 66 ID (Ontology) DOID:0111998 (Human Disease)
Definition A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.
Also Known As "IMD66"
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DO.org
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 Genes
 immunodeficiency 66       1
 for disease ribbon | immunodeficiency 66       1
 model of | immunodeficiency 66       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 66  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "IMD66" EXACT OMO:0003012
Secondary IDs
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MIM:618847