Term Name: | severe combined immunodeficiency 105 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0061074] ( DOID:0061074 ) |