Term Name: | immunodeficiency 114 |
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Synonyms: | folate-responsive 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. |
Ontology: | Human Disease [DOID:0061080] ( DOID:0061080 ) |