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Metadata
ID DOID:0061080
Name immunodeficiency 114
Definition A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.
https://pubmed.ncbi.nlm.nih.gov/36517554/
Xrefs

MIM:620603
Synonyms

folate-responsive immunodeficiency 114 [EXACT]
Parent Relationships

is_a primary immunodeficiency disease

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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