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Metadata
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/
Xrefs

MIM:619924

Parent Relationships

is_a severe combined immunodeficiency

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Infantile onset

has material basis in some autosomal recessive inheritance

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