Metadata | |
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ID | DOID:0061074 |
Name | severe combined immunodeficiency 105 |
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. https://pubmed.ncbi.nlm.nih.gov/10700239/ |
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Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |