FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 133 ID (Ontology) DOID:0061096 (Human Disease)
Definition A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.
Also Known As "immunodeficiency 133 with autoimmunity and autoinflammation"
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 Genes
 immunodeficiency 133       1
 for disease ribbon | immunodeficiency 133       1
 model of | immunodeficiency 133       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease________
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 133  1 rec.
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Is a autosomal dominant disease
primary immunodeficiency disease
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Synonyms
  • "immunodeficiency 133 with autoimmunity and autoinflammation" EXACT
Secondary IDs
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MIM:621254