severe combined immunodeficiency 105

Term ID

DOID:0061074

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. https://pubmed.ncbi.nlm.nih.gov/10700239/

References

MIM:619924

Ontology

Human Disease ( DOID:0061074 )

Relationships

is a type of: autosomal recessive disease severe combined immunodeficiency

autosomal recessive disease severe combined immunodeficiency Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models