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Metadata
ID DOID:0061089
Name immunodeficiency 123
Definition A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33.
https://pubmed.ncbi.nlm.nih.gov/34214472/
Xrefs

MIM:620901

Synonyms

immunodeficiency 123 with HPV-related verrucosis [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Pediatric onset

has material basis in some autosomal recessive inheritance

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