FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term severe combined immunodeficiency 105 ID (Ontology) DOID:0061074 (Human Disease)
Definition A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31.
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 severe combined immunodeficiency 105       1
 for disease ribbon | severe combined immunodeficiency 105       1
 model of | severe combined immunodeficiency 105       1
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
                                      severe combined immunodeficiency 105  1 rec.
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Is a autosomal recessive disease
severe combined immunodeficiency
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MIM:619924