FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 55 ID (Ontology) DOID:0111993 (Human Disease)
Definition A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
Also Known As "combined immunodeficiency due to GINS1 deficiency" ; "IMD55"
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 Genes
 immunodeficiency 55       2
 for disease ribbon | immunodeficiency 55       2
 model of | immunodeficiency 55       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__combined immunodeficiency_____|
                                  immunodeficiency 55  2 rec.
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Is a autosomal recessive disease
combined immunodeficiency
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Synonyms
  • "combined immunodeficiency due to GINS1 deficiency" EXACT
    "IMD55" EXACT OMO:0003012
Secondary IDs
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MIM:617827
ORDO:505227