FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 24 ID (Ontology) DOID:0111938 (Human Disease)
Definition A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2.
Also Known As "IMD24" ; "SCID due to CTPS1 deficiency" ; "severe combined immunodeficiency due to CTPS1 deficiency"
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 Genes
 immunodeficiency 24       1
 for disease ribbon | immunodeficiency 24       1
 model of | immunodeficiency 24       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      immunodeficiency 24  1 rec.
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Is a autosomal recessive disease
severe combined immunodeficiency
Part of
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Synonyms
  • "IMD24" EXACT OMO:0003012
    "SCID due to CTPS1 deficiency" EXACT
    "severe combined immunodeficiency due to CTPS1 deficiency" EXACT
Secondary IDs
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MIM:615897
ORDO:420573
UMLS_CUI:C4014617